Journal of Current Ophthalmology
Volume:31 Issue: 4, Dec 2019

Incorporating mass pediatric vision screening programs as part of a national agenda can be challenging. This review assessed the implementation strategy of the existing pediatric vision screening program.

A search was performed on PubMed, EBSCO host MEDLINE Complete, and Scopus databases encompassing the past ten years for mass pediatric screening practice patterns that met the selection criteria regarding their objectives and implementation. Results were analyzed from 18 countries across five continents.

Eight countries (44%) offered screening for distance visual acuity only, where the majority of the countries (88%) used either Snellen or Tumbling E chart. High-income countries initiated screening earlier and applied a more comprehensive approach, targeting conditions other than reduced vision only, compared with middle-income countries. Chart-based testing was most commonly performed, with only three countries incorporating an instrument-based approach. Lack of eyecare and healthcare practitioners frequently necessitated the involvement of non-eyecare personnel (94%) as a vision screener including parent, trained staff, and nurse.

Implementation of a vision screening program was diverse within countries preceded by limited resources issues. Lack of professional eyecare practitioners implied the need to engage a lay screener. The limitation of existing tests to detect a broader range of visual problems at affordable cost advocated the urgent need for the development of an inexpensive and comprehensive screening tool.

To determine the prevalence of glaucoma and its risk factors in a 40- to 64-year-old Iranian population.

In this cross-sectional study, 6311 individuals between the ages of 40–64 years old in Shahroud, a northeastern city in Iran, were selected through multistage cluster sampling. All participants underwent eye exams, optometry, and imaging. They had stereoscopic optic disc photography, visual field evaluation, and their intraocular pressure (IOP) was measured by ophthalmologists before pupil dilation. Glaucoma was defined by the standardized criteria, offered by the International Society for Geographical and Epidemiological Ophthalmology (ISGEO).

Of the 5190 people who participated in the study (82.2%), data from 4637 people were used in the analysis. The prevalence of glaucoma was 1.92% [95% confidence intervals (CI): 1.53–2.31]; 1.4% (95% CI: 0.96–1.84) in women and 2.62% (95% CI: 1.95–3.28) in men. Glaucoma prevalence was 0.9% in the 40–44 years age group, and significantly increased to 3.55% in the 60–64 years age group. In the multiple logistic regression model, age [odds ratio (OR) = 1.08, 95% CI: 1.05–1.12], IOP (OR = 1.04, 95% CI: 1.01–1.06), axial length (OR = 1.34, 95% CI: 1.1–1.63), corneal radius of curvature (OR = 2.76, 95% CI: 1.26–6.06), and corneal diameter (OR = 0.63, 95% CI: 0.46–0.87) showed significant statistical association with glaucoma.

The prevalence of glaucoma was considerably high at older ages. Major risk factors confirmed by this study included older age and high IOP. Certain ocular biometric components such as the axial length and the corneal radius of curvature must be noted as important glaucoma risk factors at younger ages.

To find a possible association between patients’ cooperation, perceived pain, and ocular dominance in patients who undergo photorefractive keratectomy (PRK).

One hundred-one eligible candidates for PRK refractive surgery were recruited. Preoperative exams were performed for all patients, and the dominant eye was specified. The surgeon was unaware about which eye was dominant. After surgery, the surgeon completed a cooperation score form for each patient. Ocular cyclotorsion, cooperation, and perceived pain scores were compared between the first-second eye surgeries and between dominant-non-dominant eyes surgeries.

The dominant eye was the right eye in 68 patients and the left eye in 33 patients. First, eye surgery was performed on the dominant eye in 56 patients and on the non-dominant eye in 45 patients. Cooperation score and perceived pain were not significantly different between the first and second eye surgeries (P = 0.902 and P = 0.223, respectively), but cyclotorsion was more in the second eye (P = 0.031). Cooperation score, pain score, and cyclotorsion were not significantly different between dominant and non-dominant eye surgeries (P = 0.538, P = 0.581, and P = 0.193, respectively). Also, there was no correlation between cooperation score and duration of the surgery for the first or second eye (P = 0.12 and P = 0.78).

During PRK surgery, the patients’ cooperation and perceived pain did not seem to be associated with eye laterality or dominancy.

To evaluate the correlation of corneal elevation and difference elevation with severity of keratoconus.

Anterior and posterior corneal elevations with both conventional and enhanced best-fit spheres (using rotating Scheimpflug camera) were measured. Front and back difference elevation were extrapolated from difference map of Belin/Ambrỏsio Enhanced Ectasia Display of the Scheimpflug system. Data from corneal elevations and difference elevations were correlated with maximum keratometry, minimal corneal thickness, and severity of keratoconus as assessed by Amsler-Krumiech classification of keratoconus.

Ninety eyes of 55 keratoconus patients of different clinical stages were evaluated. There was a significant positive correlation between keratoconus severity and corneal elevations (anterior and posterior elevation as measured with both conventional and enhanced best-fit spheres) and also between keratoconus severity and corneal elevation differences (P < 0.001 and r > 0.625 for all). Maximum keratometry (Kmax), mean keratometry (Kmean), and all corneal elevations and difference elevations were highly correlated (P < 0.001 and r > 0.840 for all). A significant negative correlation was found between minimum corneal thickness and all corneal elevations and difference elevations (P < 0.001 and r < 0.711 for all). Receiver operating characteristic (ROC) curve analyses showed that anterior and posterior difference elevations have the best predictive accuracy for grading keratoconus severity.

Evaluation of corneal elevation and difference elevation data obtained from Scheimpflug corneal imaging is useful for grading severity of keratoconus.

To determine the repeatability of curvature measurements in 5 corneal rings (1–5 mm from the corneal center) in keratoconus (KCN) patients using the Orbscan and Pentacam and to compare the values of these devices.

Forty-eight patients with a definite diagnosis of KCN were included in the study. Patients with any corneal scar or active disease or a history of ocular surgery were excluded from the study. The right eye of the patients was studied three times with the Orbscan and Pentacam. The repeatability of the curvatures of 5 corneal rings (1–5 mm from the corneal center) was evaluated using the Orbscan and Pentacam, and the agreement of their values was analyzed.

The intraclass correlation coefficient (ICC) of three measurements was at least 0.94 (P < 0.0001) for the Orbscan and at least 0.88 (P < 0.0001) for the Pentacam in all corneal rings. According to the grade of KCN, the Orbscan had a low ICC in the 2 mm ring in grades 2 and 3 (ICC = 0.750 and 0.298, respectively). Repeated measures ANOVA showed no significant difference between the repeated measurements of the Orbscan and Pentacam in all corneal rings. The paired t-test showed a significant difference in curvature measurements in all rings except for the 5-mm ring between the two devices (P < 0.0001). The Bland-Altman plot showed a week agreement between these two devices in 1–4 mm corneal rings in curvatures more than 45 D.

According to the results of this study, keratometry readings are highly repeatable in Pentacam and Orbscan devices in all corneal rings. Despite the high correlation between curvature measurements of the Orbscan and Pentacam, there was a significant statistical and clinical difference between the results of two devices in all corneal rings (except the 5-mm ring), and the curvature measurements of the Pentacam were steeper than Orbscan measurements.

To determine the linkage between Quality Assurance Program (QAP) and increase in utilization of donor corneas at a community Eye Bank.

A donor cornea is defined as utilized when it is used for cornea transplant. Two metrics, utilization rate (UR) and non-utilization rate (NUR), were defined. The Eye Bank implemented QAP from 2011. As a part of QAP, detailed gap analysis of tissue utilization was performed. Four major categories causing non-utilization of recovered corneas were identified. These categories were poor “Tissue Quality”, “Seropositive” donor blood sample, “Medical History” of donor, and donor “Blood Sample Issues.” The years 2008–2011 were labelled the pre-intervention period, and the years 2012–2017 were labelled the post-intervention period. Annual UR and annual NUR for the four categories of non-utilization from the pre and the post-intervention periods were statistically compared.

In the pre-intervention period, the Eye Bank recovered 1425 donor corneas in total and transplanted 762. In the post-intervention period, the Eye Bank recovered 6661 corneas in total and transplanted 4393. The UR improved from 53.47% (762/1425) in the pre-intervention period to 65.95% (4393/6661) in the post-intervention period (P < 0.001). NUR in “Tissue Quality” category decreased from 34.32% to 29.7% from the pre to the post-intervention period (P < 0.001). NUR in “Blood Sample Issues” category reduced from 3.23% to 0.32% from the pre to the post-intervention period (P < 0.001). NUR in “Medical History” category decreased from 5.68% to 0.33% from the pre to the post-intervention period (P < 0.001).

The study indicates that QAP improves UR of recovered corneas. In countries with a shortage of donor corneas, increasing utilization of recovered corneas can lead to an increase in corneal transplants. Implementation of QAP at the Eye Bank can be a means of achieving this outcome.

To evaluate ocular biometric changes in healthy subjects after caffeine consumption from a cup of coffee.

A total of 36 subjects were included in this prospective observational study. Axial length (AL) and anterior segment parameters including aqueous depth (AD), anterior chamber depth (ACD), lens thickness (LT), and central corneal thickness (CCT) were measured with optic biometry, Lenstar LS 900 (Haag-Streit, Inc., Koeniz, Switzerland) before and 1 and 4 h after ingesting a cup of coffee (60 mg caffeine/100 mL).

Mean age of the participants was 30.05 ± 7.43 years (range, 19–45). At baseline, 1st, and 4th hour, AL values were 23.9 ± 1.04 mm, 23.91 ± 1.04 mm, and 23.89 ± 1.04 mm, respectively, and no significant difference was observed (P>0.05). At baseline, 1st, and 4th hour, AD values were 3.06 ± 0.3 mm, 3.11 ± 0.3 mm, and 3.09 ± 0.3 mm, and ACD values were 3.6 ± 0.32, 3.66 ± 0.31, and 3.64 ± 0.31, respectively. AD and ACD values were significantly greater than baseline at 1st and 4th hours following coffee ingestion. Coffee intake caused a significant reduction in LT, compared with baseline and at the 1st and 4th hours which were 3.76 ± 0.28 mm, 3.69 ± 0.32 mm, and 3.72 ± 0.27 mm, respectively. No statistically significant difference was determined in between the 3 measurements in terms of CCT (P>0.05).

Caffeine causes a significant increase in AD and ACD and a significant decrease in LT following oral intake, for at least 4 h.

To study the anatomical and surgical prognostic factors related to developing postoperative intraretinal cystoid spaces (ICS) six months after 25-gauge pars plana vitrectomy (PPV) for vitreomacular traction (VMT).

The study is a retrospective case series of patients presenting with VMT treated primarily with PPV. All patients underwent 25-gauge PPV by the same retina surgeon. Intra-operative parameters were all recorded. Postoperative visual acuity (VA), foveal thickness, and ICS were collected over six months of follow-up. ICS were defined as hyporeflective cysts divided by hyperreflective septa on optical coherence tomography (OCT). Patients with ICS persistence 3 months postoperatively received topical treatment extension. The primary outcome measure was odds of preoperative ICS in patients with postoperative ICS compared to controls. Secondary outcome measures were odds of presence of an attached hyaloid to the optic disc, presence of pseudophakia, the use of intra-operative air, and the use of more than one intra-operative indocyanine green (ICG) injections in patients with postoperative ICS compared to controls.

Two hundred and eighty treatment-naïve patients with preoperative diagnosis of epiretinal membrane (ERM) were reviewed. Thirty patients with VMT, confirmed both preoperatively on OCT and intra-operatively, were included. Postoperatively, 40% (n = 12) presented with ICS at 6 months. Among these, 83% (n = 10) had ICS prior to PPV. Patients presenting with preoperative ICS were significantly more at risk of having persistent ICS postoperatively (P < 0.05). The following factors did not statistically affect ICS occurrence: optic disc hyaloid attachment status, phakia/pseudophakia, intra-operative air vs. sulfur hexafluoride (SF6), and the number of intra-operative ICG injections.

Our data demonstrate a predictive relationship between the occurrence/persistence of ICS post-PPV for VMT and the initial foveal status. Specifically, having preoperative ICS is a major risk factor for its persistence postoperatively. Our data highlight the pathophysiological importance of the vitreous phase and its effect on visual prognosis.

To evaluate the effects of intravitreal bevacizumab (IVB) injection on chronic central serous chorioretinopathy (CSC).

In this prospective interventional case series, a total of 22 eyes of 22 patients, diagnosed with unresolved CSC for three months or longer, received 1.25 mg IVB injection. Also, in case of failure to achieve success parameters, double dose IVB injections continued in order to reach the complete subretinal fluid (SRF) absorption. A complete ophthalmic assessment was carried out one day, one week, and one-month post-injection, and then a monthly visit was performed, and re-injection was done if needed. Visual acuity, subretinal space volume (SSV), central macular thickness (CMT), and contrast sensitivity were measured and compared among baseline values and final post-treatment values.

The mean best corrected visual acuity increased significantly from 0.70 ± 0.22 to 0.17 ± 0.15 logMAR (P <0.001), and the CMT showed a significant reduction from 557.36 ± 129.12 to 259.50 ± 116.73 μm (P <0.001 ). In addition, SSV decreased significantly from 10.53 ± 2.03 to 6.63 ± 1.80 (P = 0.001), and contrast sensitivity improved significantly from 13.8182 ± 2.64820 dB to 17.6818 ± 1.80967 dB (P <0.001).

In this series, SRF absorption occurred and visual acuity improved after IVB injections, however, further comparative studies are needed to show the effect of IVB in chronic CSC.

To evaluate the anatomical and functional outcome of patients with traumatic submacular hemorrhage (SMH).

A retrospective, interventional case series of patients presenting between January 2016 and April 2018 was carried out at 4 tertiary eye care centers of India. Medical records of the patients with a history of blunt trauma and SMH were retrospectively reviewed. The intervention done was any one of the following: pneumatic displacement with 0.3 ml of intravitreal gas [100% perfluoropropane (C3F8) gas], pneumatic displacement with intravitreal 0.3 ml of 100% C3F8 gas combined with 100 μg/0.1 ml of recombinant tissue plasminogen activator (r-tpa), pars plana vitrectomy (PPV) with subretinal r-tpa and gas tamponade. The primary outcome measures included change in visual and anatomical status.

Twenty eyes of 20 patients with blunt trauma were analyzed. Thirteen patients had small size SMH, 5 patients had medium size SMH, and 2 patients had massive size SMH. Sixteen patients had a favorable functional outcome, and eighteen patients had favorable anatomical outcome. The size and duration of post-traumatic SMH did not significantly affect the anatomical (P = 0.123) or functional (P = 0.293) outcome in our study. The patients who presented with initial visual acuity of 6/60 or better showed better functional outcome, which was statistically significant (P = 0.007).

Minimally non-invasive procedure including intravitreal r-tpa and gas appear to be effective in the displacement of post-traumatic SMH.

To clarify the difference of retinal nerve fiber layer (RNFL) thicknesses between patients with retinitis pigmentosa (RP) and normal subjects.

The study included right eyes of 30 patients with non-late-stage RP, which had a waxy pallor in OD, attenuation in retinal arterioles, and midperipheral bone spicule pigmentary changes. To compare the RNFL analysis with normal subjects, the right eyes of 30 age- and gender-matched healthy subjects were included as a control group.

There were no differences between the RP and control groups in terms of demographic and baseline characteristics (P > 0.05, for all). The mean temporal quadrant RNFL thickness was 102.9 ± 31.7 μm (43–222) in the RP group and 72.4 ± 11.8 μm (51–90) in the control group (P < 0.001). The mean nasal quadrant RNFL thickness was 57.6 ± 33.7 μm (21–140) in the RP and 75.0 ± 14.1 μm (56–132) in the control group (P < 0.001). There were no significant RNFL thickness differences between the groups in other sectors and globally (P > 0.05, for all). There was no significant correlation between temporal RNFL thickening and ageing (r = −0.136, P = 0.196) while there was a significant correlation between nasal RNFL thinning and ageing (r = −0.274, P = 0.047).

RNFL is thicker in temporal quadrants and thinner in nasal quadrants in non-late stage RP. Age-related decreases in RNFL thickness occurred earlier in the nasal quadrant and RNFL thickening in the temporal quadrant occurred earlier than this global thinning.

To compare the effects of graded anterior transposition with myectomy in primary inferior oblique overaction (IOOA).

In a randomized clinical trial study, patients entered into two groups: graded anterior transposition (Group 1) and myectomy (Group 2). In the myectomy method, 8 mm of the inferior oblique (lO) muscle was excised in the lower temporal side, and in the graded anterior transposition group, the IO muscle was recessed according to Wright's method. Patients were followed up for at least 1.5 months. IOOA was graded from 0 to +4. Surgical success was defined as reduced IOOA to a grade of +1 or less.

In a randomized clinical trial study, a total of 30 patients (60 eyes) were included in the study (32 eyes in Group 1 and 28 eyes in Group 2). Pre-operation IOOA was 3.18 ± 0.78 and 3.25 ± 0.70 in Groups 1 and 2, respectively. Mean IOOA in Group 1 and 2 was 0.95 ± 0.24 and 0.40 ± 0.10 at 6 months after the surgery, which means the mean correction of the overaction was statistically significant in both methods (P < 0.001). The success rate in the myectomy procedure was higher than graded recession. The weakening effect was better in higher grades of overaction (P < 0.001). The overall success rate of Groups 1 and 2 was 75% and 96.4%, respectively (P = 0.029).

In both groups, IOOA significantly decreased after the operation. The success rate of the myectomy procedure was found to be significantly higher than graded anterior transposition.

To compare the effect of amblyopia therapy on cases who received interactive binocular treatment (I-BiT™) with those who received standard patching of the dominant eye with placebo I-BiT™.

In this randomized clinical trial, 38 unilateral amblyopic children (3–10 years old) were studied. All unilateral amblyopic children who had best corrected visual acuity (BCVA) worse than 0.30 logMAR or a difference of two Snellen lines of BCVA between their two eyes were included, and children who did not complete at least 75% of amblyopia treatment were excluded from this study. Eventually, a total of 19 and 21 subjects were included in case and control groups, respectively. Cases played I-BiT™ games, while controls had standard patch therapy and played with placebo I-BiT™ games, both for one month. All subjects were examined at baseline and after one-month therapy.

BCVA improved significantly in both groups after one-month treatment (case: P = 0.003, control: P < 0.001), while in comparison with each other, there was not any difference between them (P = 0.52). Although stereopsis improved in the case (P < 0.001) and control (P < 0.001), there was no significant difference between them pre and post-therapy. Our children played games for about 6 h total during one month in both groups, and their compliance was 87.5% and 76% in cases and controls, respectively. Two children were excluded due to their lower compliance of playing I-BiT™ games (n = 38).

I-BiT™ game and patching with placebo game had similar BCVA improvement in amblyopic children after one-month treatment. It is suggested to conduct further randomized clinical trials with a larger sample size and longer duration of study and assessment of its recurrence.

To measure orbital dimension of patients with exorbitism and defining criteria for its diagnosis.

Twelve patients with non-syndromic exorbitism (NSE) were compared with 24 control samples by means of computed tomography scan (CT-scan) findings. The proptosis severity, lateral wall length, medial wall length, optic nerve straight length, lateral wall angle, ethmoidal sinus surface area, mid-interorbital distance, anterior interorbital distance, external orbital distance, inter-pupillary distance, and lateral wall curve cord were evaluated in order to define a criterion for NSE.

Among eleven compared radiological parameters between the study and control groups, five parameters including lateral orbital wall angle (P = 0.02), mid-interorbital distance (P = 0.007), anterior inter-orbital distance (P < 0.001), inter-pupillary distance (P = 0.01), and proptosis severity (P < 0.001) were found to be significantly different between the study groups. Therefore, NSE could be diagnosed with lateral wall angle greater than 41.74°, mid-interorbital distance more than 31.84 mm, and anterior interorbital distance more than 25.90 mm, with a sensitivity of 91% and specificity of 71%.

Using lateral wall angle, mid-interorbital distance, and anterior interorbital distance, we defined the criterion for diagnosis of NSE. Moreover, by focusing on parameters which play a role in developing exorbitism, we can determine the best approach for improvement of aesthetic and functional features of this condition.

To assess the effect of night shift work on image quality and artifacts when performing optical coherence tomography angiography (OCT-A).

In a prospective case series study, twenty nurses underwent OCT-A in two separate sessions: early in the morning before duty shift and at the end of a night shift. Quantitative measurements of horizontal and vertical saccadic, blink, and stretch artifacts and also signal strength of the images were recorded. Moreover, using visual analogue scale of pain (VAS), the perceived pain and discomfort by blue focus light and red scanning laser were recorded.

Vertical and horizontal saccades, blink, and stretch artifacts were significantly higher after the night shift (P = 0.004, P = 0.015, P < 0.001, and P < 0.001, respectively). Signal strength was not significantly different between the two measurements (P = 0.71). Also, the level of discomfort which was experienced by blue focus light and red scanning laser light was significantly higher after the night shift (P = 0.009 and P = 0.004, respectively).

Our study suggests that night shift may affect image quality of OCT-A by imposing more artifacts.

To report best vitelliform macular dystrophy (BVMD) with an intriguing pattern of vascular flow on optical coherence tomography angiography (OCTA).

Four eyes of two patients with BVMD were evaluated. Complete ophthalmic examination including best corrected visual acuity (BCVA), spectral domain optical coherence tomography (SD-OCT), and OCTA were performed. Diagnosis was confirmed by electroretinography (ERG) and electrooculography (EOG) testing.

All eyes had the electrophysiologic confirmation of the BVMD. The first patient was 35 years old with BCVA of 20/20 and pseudohypopyon stage macular lesion in right eye (RE) and BCVA of 20/32 and vitelliruptive stage macular lesion in the left eye (LE). The second patient was 18 years old with BCVA of 20/25 and macular lesion in vitelliform stage in the RE and BCVA of 20/60 and choroidal neovascularization (CNV) in the LE. In all eyes, a distinct foveal avascular zone (FAZ) was not detectable in OCTA, with a bridging vessel in the FAZ. A dense subretinal capillary network compatible with CNV in the LE of second patient was observed.

In our cases, we found bridging vessel in the FAZ, and it may be due to the effects of bestrophin on the calcium content and vascular endothelial growth factor (VEGF) secretion of the retinal pigment epithelium (RPE) cells.

To describe an atypical presentation of pigment dispersion syndrome (PDS) with diffuse, homogeneous pigment deposition on the corneal endothelium and its management.

A 44-year-old female was referred to a cornea clinic as a case of endothelial dystrophy. Slit-lamp examination revealed bilateral, diffuse, and homogeneous pigment deposition on entire corneal endothelium without any iris transillumination defects. Intraocular pressure (IOP) at presentation were 18 mmHg OD and 16 mmHg OS. Gonioscopy showed dense, homogeneous pigment deposition in the angles. The optic nerve head examination revealed a cup disc ratio of 0.6:1–0.7:1 in both eyes with neuroretinal rim thinning.

Peripheral Nd:YAG laser peripheral iridotomy (PI) was performed. On follow-up, a localized clear pigment free endothelial area was noted over the iridotomy sites bilaterally. IOP was well controlled within 12–14 mmHg with prostaglandin analogue at last follow-up of 24 months.

Diffuse homogeneous pigment dispersion on the endothelium may occur in atypical cases of PDS which may clear in the areas overlying the PI site and, therefore, should not be confused with endothelial disease. This case demonstrates the significance of a thorough clinical evaluation in cases with unusual presentation.

To report a case of pachydermoperiostosis (PDP) and a review of the literature.

A 32-year-old man was referred to our clinic with bilateral eyelid swelling and blepharoptosis. On examination, marked blepharoptosis was noted, and his eyelids were found to be floppy. Systemic examination was significant for clubbing of digits, coarse acromegalic facial features, and furrowing and oiliness of the skin of scalp and forehead.

The patient was diagnosed as a case of PDP. On the brain MRI, the pituitary gland was enlarged, and the border of clivus was irregular. Pituitary and thyroid hormone levels were normal. He underwent bilateral lateral tarsal strip (LTS) procedure to address the eyelid laxity. Histopathologic examination revealed marked sebaceous gland hyperplasia with mucin deposition in the dermis.

Floppy eyelid syndrome, clubbing, and acromegaloid face are main features that could lead to the diagnosis of PDP.

To present a documented case of development of focal choroidal excavation (FCE) in non-neovascular age related macular degeneration (AMD).

An 86-year-old female with pachy-choroid was followed clinically for non-neovascular AMD. Successive optical coherence tomography (OCT) scans were reviewed with tracking software.

Over the course of follow-up development of a FCE adjacent to a pachy-vessel along with disappearance of the pachy-vessel was documented in OCT.

This case is a documented development of FCE in an eye with pachy-choroid features. The possible mechanism in this scenario may be thrombosis of pachy-vessels.

To investigate genetic mutation(s) underlying retinal degeneration in a male patient.

A seven-year-old male patient was referred to receive genetic counseling and molecular testing. Clinical examination was performed by slit-lamp examination and electroretinography (ERG). Molecular testing was undertaken through arrayed-primer extension (APEX) and Sanger sequencing.

Slit-lamp examination and flat ERG were in favor of Leber congenital amaurosis (LCA) disease as well as fundus findings. The genetic screening revealed two novel homozygote deletion and duplication variants in intron 15 and exon 16 of the GUCY2D gene. Segregation analysis in the family supports the probable contribution of these two novel mutations in clinical representations of the patient.

This report provides more information about LCA disease and its relevant mutations in Iran. Considering the overlapping phenotypes observed in retinal degenerative disorders, comprehensive molecular testing is needed for precise diagnosis.