Coloboma of the retina, choroid and iris co-existing with cardiac & Skeletal anomalies in a male Nigerian: A case of noonan syndrome.

A 19-year-old male undergraduate presented to the eye clinic with a history of poor vision in the left eye since childhood. The best-corrected visual acuity was 6/6 in the right eye and hand movement in the left eye respectively. Examination of the anterior segment of the right eye was essentially normal, whereas the anterior segment examination of the left eye revealed a small globe, microcornea, and an iris coloboma inferiorly at the 6 o'clock position. Binocular indirect ophthalmoscopy of the right eye revealed a pink disc, normal vessels and macula, lattice degeneration with retinal holes, and a flat retina. The left eye had a pink disc, normal macula and vessels with an inferior arc-shaped excavation with exposure of the sclera, which involved both the disc and macula and was in keeping with a retinochoroidal coloboma. Systemic examination revealed low-set ears with a left atrophic pinna, mild kyphoscoliosis, pectus excavatum, and an atrophic left lower limb with anomalies of the toes and talipes equinovarus. A pan-systolic murmur was present on cardiovascular examination.

Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.

Purpose: Two frameshift and two indel variants in FZD5 have been reported to cause coloboma in two families with incomplete penetrance and in two isolated cases in previous studies, respectively. This study aims to confirm this association and expand related specific phenotypes based on the genotype-phenotype analysis of FZD5 variants. Methods: Variants in FZD5 were collected from our in-house exome sequencing data of 5,845 probands with different eye conditions. Multistep bioinformatics analysis was used to classify the variants. Potential pathogenic variants and phenotypic variations were further evaluated based on family segregation and genotype-phenotype analysis. Results: In total, 63 rare variants were detected in FZD5. Multistep bioinformatics and genotype-phenotype analyses suggested that eight rare heterozygous variants in nine families should be considered potential pathogenic variants: three novel frameshift variants (c.350_356delCGCCGCT/p.Ser117*, c.1403_1406dupACCT/p.Tyr470Profs*130, and c.1428delG/p.Ser477Alafs*130) and five novel missense variants (c.388C>A/p.Arg130Ser, c.794G>T/p.Arg265Leu, c.1162G>A/p.Gly388Ser, c.1232A>G/p.Tyr411Cys, and c.1510A>T/p.Met504Leu). Among the nine families, carriers of these variants showed overlapping phenotypes, including typical uveal coloboma (12 eyes of seven patients from four families), inferior chorioretinal hypoplasia (ICH) or optic disc hypoplasia (ODH; 12 eyes of eight patients from six families), and high myopia (10 eyes of five patients from five families) within individual families or among different families. Conclusions: The data presented in this study confirmed that variants in FZD5, not only frameshift variants but also missense variants, are a common cause of uveal coloboma. In addition, ICH, ODH, and high myopia may be variant phenotypes that are frequently associated with FZD5 variants.

Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.

We report a male adult with early infantile-onset epilepsy, facial dysmorphism, and iridal and choroidal coloboma who had a de novo heterozygous mutation in PACS2, that is, c.625G > A p.(Glu209Lys). This specific mutation was previously reported in a patient with PACS2-related disorder (early infantile epileptic encephalopathy 66). De novo heterozygous mutations in WDR37 have been shown to cause a novel human disorder, neurooculocardiogenitourinary syndrome (NOCGUS syndrome) (OMIM #618652), characterized by intellectual disability, facial dysmorphism, and coloboma. According to large-scale interactome data, WDR37 interacts most strongly, by far, with PACS1 and PACS2. Clinically, coloboma has been described as a feature in a WDR37-related disorder and a PACS1-related disorder (Schuurs-Hoeijmakers syndrome), but not in a PACS2-related disorder. Our review of the phenotypes of three human disorders caused by WDR37, PACS1, and PACS2 mutations showed a significant overlap of epilepsy, intellectual disability, cerebellar atrophy, and facial features. The present observation of coloboma as a shared feature among these three disorders suggests that this group of genes may be involved in ocular development. We propose that dysregulation of the WDR37-PACS1-PACS2 axis results in a spectrum that is recognizable by intellectual disability, distinctive facial features, and coloboma.

CHOROIDAL INFLAMMATION AND CHORIOCAPILLARIS ISCHEMIA IN FOCAL CHOROIDAL EXCAVATION IN COMPARISON TO PACHYCHOROID NEOVASCULOPATHY.

PURPOSE: To investigate the choriocapillaris and choroidal characteristics of focal choroidal excavation (FCE) to establish pathomechanisms of the disease. METHODS: Thirty eyes with FCE, 26 eyes with pachychoroid neovasculopathy (PNV), and 25 participants without any conditions (control group) were analyzed retrospectively. The thickness of both choriocapillaris equivalent and whole choroid was measured at three different points: under the lesion (excavation or neovascularization), in the normal retina, and in the fovea of fellow eye. Indocyanine green angiographic images were collected to confirm choriocapillaris ischemia and the presence of choroidal inflammation. RESULTS: In both FCE and PNV, choriocapillaris-equivalent attenuation was observed under the lesion compared with other region of the retina (28.1 ± 11.3 µm vs. 69.4 ± 20.0 µm in FCE; 23.5 ± 9.7 µm vs. 62.3 ± 14.7 µm in PNV; both P < 0.001). We also observed focal thinning of the whole choroid under the lesion (149.7 ± 88.7 µm vs. 296.6 ± 83.2 µm; P < 0.001) in FCE but not in PNV. Pachyvessels distribution on optical coherence tomography and numerous dark areas on indocyanine green angiography implied that choroidal inflammation was related to the FCE occurrence. CONCLUSION: Choriocapillaris ischemia was related to both FCE and PNV. The choroidal thinning under the excavation and adjacent pachyvessels observed in FCE suggested that focal inflammation and scarring may contribute to choriocapillaris ischemia and eventual retinal pigment epithelium retraction with dysfunction in the pathomechanism.

A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.

The joint occurrence of short stature, congenital dislocation of the hip, carpal coalition, dislocation of the radial head, cavus deformity, scoliosis, and vertebral anomalies was first described in 1993 by Steel et al. (OMIM #615155) in 23 children from Puerto Rico. The condition is caused by a deficient matrix protein, collagen type XXVII alpha 1 chain, due to bi-allelic loss of function mutations in the gene COL27A1. Outside of Puerto Rico, only four families have been described, in three of which the patients also had hearing loss. However, structural eye defects have not yet been reported in conjunction with this rare autosomal recessive syndrome. Here, we describe a 9-year-old girl born to nonconsanguineous Syrian parents with the characteristic features of Steel syndrome, including short stature, massive malalignment of large joints, kyphoscoliosis, hearing loss, and typical facial dysmorphism. However, she was also born with bilateral colobomata of the irides and choroido-retinae with unilateral affection of the macula. Whole exome sequencing identified two pathogenic compound heterozygous variants in COL27A1: c.93del, p.(Phe32Leufs*71) and c.3075del, p.(Lys1026Argfs*33). There was no discernible alternative cause for the colobomata. Our findings might indicate an association of this exceptionally rare disorder caused by COL27A1 mutations with developmental defects of the eye from the anophthalmia/microphthalmia/coloboma spectrum.

OUTCOMES OF VITRECTOMY WITH SILICONE OIL TAMPONADE FOR MANAGEMENT OF RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA.

PURPOSE: To estimate the outcomes of retinal detachment in eyes with chorioretinal coloboma managed by pars plana vitrectomy and silicone oil tamponade. METHODS: A retrospective chart review of 10 eyes (10 patients) who underwent pars plana vitrectomy for retinal detachment with chorioretinal coloboma. RESULTS: The average age at the time of the surgery was 29.8 ± 19.7 years. The mean follow-up period was 28.8 ± 28.4 months. The mean silicone oil tamponade duration was 9.8 ± 3.5 weeks. Of 10 eyes, 4 (40%) had retinal breaks outside the coloboma, 4 (40%) had breaks inside the coloboma, 1 (10%) had breaks inside and outside the coloboma, and in 1 eye (10%); the causative retinal break was not localized. Preoperatively, the mean visual acuity was 20/2,500 (n = 9), and 1 (10%) was recorded as "Not CSM." At the final examination, the mean visual acuity for the patients with measurable visual acuity was 20/200 (P = 0.06), and in the remaining eye was recorded as light perception. The retina was finally reattached in nine eyes (90%). Postoperative complications included cataract in three (30%), persistent elevated intraocular pressure in one (10%), band keratopathy in one (10%), and proliferative vitreoretinopathy in one (10%). CONCLUSION: Complete pars plana vitrectomy with or without lensectomy, laser photocoagulation around the peripheral retina, around all the peripheral breaks and around the colobomatous area, and silicone oil tamponade is effective for retinal detachment in eyes with chorioretinal coloboma. Silicone oil removal as early as possible did not increase the risk of redetachment and seems to reduce the incidence of oil-related complications in such cases.

Case Report: Focal Choroidal Excavation Underlying Combined Hamartoma of the Retina and Retinal Pigment Epithelium.

SIGNIFICANCE: There are few reports of focal choroidal excavation (FCE) in combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). This report documents a case of this rare condition and suggests that there might be a relationship between FCE and CHRRPE. PURPOSE: The purpose of this study was to describe a case of FCE underlying CHRRPE. CASE REPORT: A 6-year-old Chinese boy presented with a 2-month history of decreased vision in his left eye. Fundus examination of the left eye showed an elevated fibrotic mass in the macular area with pigment disturbance. Optical coherence tomography revealed a cup-shaped FCE in the macula with thickening and disorganization of multiple retinal layers and overlying epiretinal proliferation in the left eye. A diagnosis of FCE within CHRRPE was made, and periodic review was recommended. CONCLUSIONS: There may be an association or a causal relationship between CHRRPE and FCE. It is plausible that FCE in the setting of CHRRPE is a developmental abnormality that occurs after birth because of a weakening of the retinal pigment epithelium and thinning of the choroid beneath the tumor. Continued monitoring for FCE progression and potential choroidal neovascularization is indicated.

SURGICAL OUTCOMES AND COMPLICATIONS OF RHEGMATOGENOUS RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA: The Results of the KKESH International Collaborative Retina Study Group.

PURPOSE: To study the outcomes of management of rhegmatogenous retinal detachment in eyes with chorioretinal colobomas. METHODS: A retrospective review of 119 patients (119 eyes) with chorioretinal colobomas who underwent surgical repair for rhegmatogenous retinal detachment was performed. Data were collected on the site of the retinal break, type of surgery, anatomical success, and complications. RESULTS: The most common location of the primary retinal break was the intercalary membrane in 58.8% of eyes. The most common surgical intervention was vitrectomy with endolaser and silicone oil tamponade (77.3% of eyes). Final anatomical success was achieved in 87.4% of eyes. Anatomical success was significantly higher in eyes that received long-acting tamponade (P = 0.006). Cryotherapy was significantly associated with failure of primary vitrectomy (P = 0.028). Placement of an encircling band did not affect anatomical outcomes (P = 0.75). Most of the eyes (60%) with recurrent retinal detachment after primary vitrectomy had a primary break within the normal retina. CONCLUSION: The optimal option for managing retinal detachment in eyes with chorioretinal colobomas is pars plana vitrectomy with long-acting tamponade (silicone oil or octafluoropropane) and retinopexy to the edge of the coloboma and the primary breaks. Cryotherapy is associated with poor anatomical outcomes. An encircling band does not seem to affect the final anatomical outcome.

Another Form of Focal Choroidal Excavation Based on Multimodality Imaging.

PURPOSE: To describe a peculiar choroidal entity using multimodality imaging and to further understand the relationship between focal choroidal excavation and central serous chorioretinopathy. CASE REPORT: A peculiar entity was detected in both eyes of a 20-year-old male patient who was followed for more than 4 years; one perifoveal focal choroidal excavation and two extrafoveal focal choroidal excavations were noted in each eye. The bilateral perifoveal focal choroidal excavations exhibited progressive development with repeated interconversion between the nonconforming and conforming types. Dilated choroid blood vessels were detected by en face spectral-domain optical coherence tomography (SD-OCT). Although the ellipsoid zone and retinal pigment epithelium layer defect also involved the fovea, a visual acuity of 20/20 was maintained in both eyes, with neither metamorphopsia by Amsler grid nor abnormalities noted by multifocal electroretinogram. However, pigment epithelium detachment finally appeared in the right eye. The microperimetry test revealed reduced threshold sensitivity corresponding to the lesions, and near-infrared autofluorescence revealed increased hyperfluorescence at the latest visit. CONCLUSIONS: Idiopathic focal choroidal excavation may convert to the structure of central serous chorioretinopathy alike, which likely indicates another rare condition of focal choroidal excavation or central serous chorioretinopathy. Wide- and deep-scanning modes should be routinely applied in OCT imaging to detect choroidal disorders.

Various SD-OCT features of focal choroidal excavations.

PURPOSE: To describe the clinical and spectral domain optical coherence tomography (OCT) features of two cases of focal choroidal excavation (FCE) and to review relevant literature to increase awareness and understanding of this rare condition. CASE REPORT: Spectral domain OCT, enhanced depth imaging, and fundus autofluorescence (short wavelength and near infrared) were used to study two cases of FCE. Both patients were asymptomatic and maintained good vision at 6 months follow-up despite one case showing progression from a conforming- to a nonconforming-type FCE. At both lesion sites, the sclerochoroidal junction was unaltered, and the overlying retinal layers (retinal nerve fiber layer to outer plexiform layer) also remained intact. Enhanced depth imaging revealed an absence or compression of outer choroidal layers beneath the excavation and the presence of abnormally large choroidal vessels adjacent to the excavation. The near-infrared autofluorescence showed improved ability to highlight the FCE lesion compared with traditional short-wavelength autofluorescence. CONCLUSIONS: Focal choroidal excavation is a rare, often asymptomatic macular condition. It appears on funduscopic examination as retinal pigment epithelial abnormalities, but its true structure is revealed with OCT. Certain spectral domain OCT imaging modalities, such as enhanced depth imaging and short and near-infrared autofluorescence, are helpful to monitor these lesions and to better understand its pathophysiology as it relates to choroidal vascular abnormalities.

Clinical and spectral-domain optical coherence tomography findings in patients with focal choroidal excavation.

OBJECTIVE: To describe the clinical and spectral-domain optical coherence tomography (SD-OCT) findings in patients with focal choroidal excavation (FCE). DESIGN: Retrospective case series. PARTICIPANTS: Forty-one eyes of 38 patients with FCE identified in 2 tertiary medical centers in Korea. METHODS: Clinical features, SD-OCT findings, and associated macular disorders of FCE were analyzed and detailed. MAIN OUTCOME MEASURES: Statistical associations among clinical features, including lesion type, size, and choroidal thickness, and frequency of association with central serous chorioretinopathy (CSC), choroidal neovascularization (CNV), and polypoidal choroidal vasculopathy (PCV). RESULTS: Mean patient age was 50.1 years (range, 25-76 years). The mean spherical equivalent of refractive error was -3.7 diopters (range, -10.0 to +1.5 diopters). Three patients (8%) had bilateral lesions, and 1 patient (3%) had 2 distinct lesions in the same eye. The mean FCE width and depth were 757 µm and 107 µm, respectively, with a positive correlation between width and depth (P = 0.003). The mean subfoveal choroidal thickness of FCE eyes was 284 µm, which was not statistically different from that of age-, sex-, and refractive error-matched normal subjects. Choroidal thickness in FCE was less in eyes with hyperreflective choroidal tissue under the excavation that was present in 22 eyes (54%) versus eyes without excavation (128 vs. 190 µm, respectively; P = 0.009). Twelve FCEs (29%) were the nonconforming type, revealing separation between the photoreceptor tips and the retinal pigment epithelium on SD-OCT. Nonconforming FCE was associated with visual symptoms (P < 0.001) and the presence of concurrent CSC (P = 0.001). Ten eyes (24%) were associated with CSC, and 9 eyes (22%) were associated with CNV, including 1 eye with PCV features. One eye with FCE and type 1 CNV developed a new excavation, and the excavated area in 1 eye with PCV enlarged slightly during follow-up. CONCLUSIONS: Focal choroidal excavation is a relatively common entity and frequently associated with choroidal diseases, including CSC, CNV, and PCV. Although FCE is classically thought to be a congenital malformation, acquired FCE forms possibly exist.

Characteristics of central serous chorioretinopathy complicated by focal choroidal excavation.

PURPOSE: To investigate the characteristics of central serous chorioretinopathy complicated by focal choroidal excavation (FCE) using fundus angiography and optical coherence tomography (OCT). METHODS: A retrospective single-institution study. We reviewed the charts of 7 eyes of 7 patients (5 men, 2 women; mean age, 56.9 ± 9.8 years) with central serous chorioretinopathy complicated by FCE using fundus angiography and OCT. RESULTS: In six of the seven eyes, the points of leakage were at the edge of FCE on OCT. All FCE lesions were hypofluorescent from early to late phase on indocyanine green angiography. All eyes had late-phase hyperfluorescence on indocyanine green angiography secondary to choroidal vascular hyperpermeability around the FCE lesion. Five fellow eyes also had choroidal vascular hyperpermeability. The mean subfoveal choroidal thicknesses by swept source high-penetration OCT were 377 µm and 333 µm in the fellow eyes, a difference that did not reach significance (P = 0.21). CONCLUSION: Fundus angiography and OCT showed that choroidal circulatory disruption and atrophic retinal pigment epithelium at the FCE lesion might be related to central serous chorioretinopathy complicated by FCE.

Vitrectomy treatment of retinal detachments related to choroidal coloboma involving the disk.

PURPOSE: To evaluate the anatomical and functional outcomes of retinal detachment with choroidal coloboma involving the disk, by incising the entire intercalary membrane along the margin of the coloboma and displacing part of the macular retina to healthy retinal pigment epithelium (RPE), and then treating the entire margin of the RPE surrounding the coloboma with diode laser. METHODS: Pars plana vitrectomy was performed in five eyes with retinal detachment resulting from choroidal coloboma involving the disk. The entire intercalary membrane along the margin of the coloboma was incised. Part of the intercalary membrane in the macular region remained, and together with the macular retina was displaced slightly to healthy RPE. Carefully titrated diode laser burns were applied in the functional border of the disk (the border of papillomacular bundle) to reduce the nerve fiber layer damage, and endolaser of three to four rows was performed along the border of the coloboma. Anatomical reattachment of the retina and visual acuity were measured. RESULTS: At the end of 12 months after the first surgery, the rate of retinal reattachment was 100% (5 eyes), and visual acuity improved from a preoperative perception of light or hand movement to counting fingers in 2 eyes and 3 eyes retained preoperative visual acuity. CONCLUSION: For these retinal detachment eyes with choroidal coloboma involving the disk, complete vitrectomy, incising the entire intercalary membrane along the margin of the coloboma and displacing part of the macular retina to healthy RPE, treating the entire margin of the RPE surrounding the coloboma with diode laser provides an effective treatment for this complicated type of retinal detachment with good long-term anatomical outcome.

Evaluation of the safety of sclerotomy incision in patients with choroidal colobomas with/without associated microcornea.

PURPOSE: Whether the position of the ora serrata is normal in patients with choroidal colobomas remains unknown. The aim of this study was to measure the distance between the ora serrata and limbus in these patients and define safe sclerotomy sites for standard three-port pars plana vitrectomy. METHODS: Twelve patients with choroidal colobomas with normal corneas (Group 1) and 11 patients with choroidal colobomas with microcornea (Group 2) were included in the study. Twelve patients with simple retinal detachment served as control subjects. All participants underwent vitrectomy. The distance between the limbus and ora serrata, corneal diameter, and ocular axial length were measured. RESULTS: The average corneal diameter was 10.9 mm in Group 1, 7.9 mm in Group 2, and 11.4 mm in the control group. The average distance between the limbus and ora serrata was 6.3 mm in Group 1, 7.6 mm in Group 2, and 6.2 mm in the control group. There were significant differences in the distance between the limbus and ora serrata among the 3 groups (analysis of variance test, P < 0.05). CONCLUSION: Our study confirmed that it is safe to perform a sclerotic puncture 4 mm posterior to the limbus for vitrectomy in patients with choroidal colobomas with or without microcornea.

Clinical and optic coherence tomography findings of focal choroidal excavation in Chinese patients.

BACKGROUND: To describe the clinical and optical coherence tomography (OCT) features of focal choroidal excavation in Chinese patients. METHODS: Retrospectively, thirty-seven eyes (in 31 patients) that demonstrated focal choroidal excavation on spectral-domain OCT were collected. Their clinical characteristics and other features were also collected and analyzed. RESULTS: In total, 42 focal choroidal excavations were identified in 31 patients, including 25 unilateral and 6 bilateral (37 eyes). The abnormal changes in these eyes with choroidal excavation were more prominent at the outer part of the neuro-retina, the retinal pigment epithelium (RPE) and the choroid. The average transverse diameter and depth of the excavations were 670.8 µm and 106.9 µm, respectively. In addition to the conforming and nonconforming types, the excavations could also be classified into 2 types according to their shape: type 1 - small with a sharp, cut-down contour; and type 2 - slightly larger with a gradual edge. The transverse diameter/depth ratio of the two types were significantly different (type1: 4.57 ± 1.65, type 2: 10.0 ± 5.2; p = 0.000). Four central serous chorioretinopathy (CSCR) cases were confirmed by fluorescein angiography; in these cases, the retinal detachment was larger than the area of excavation, and the inner segment/outer segment (IS/OS) and external limiting membrane (ELM) were above those of the normal part. Concomitant CNV was also found in another 2 cases. CONCLUSIONS: Focal choroidal excavation was not uncommon in Chinese patients. The choroid and the RPE at the excavation were impaired or vulnerable to other damage. Additionally, OCT might be useful in the differentiation between nonconforming excavations and ones with CSCR.

Two cases of CHARGE syndrome with multiple congenital anomalies.

We report on two cases of bilateral chorioretinal colobomas with ocular anomalies in patients with CHARGE syndrome. In the first case, a female infant was born at 36 + 5 weeks gestation. At birth, the patient demonstrated a small left eye. Slit-lamp examination revealed colobomas of both irises. Fundus examination showed both chorioretinal colobomas. Brain magnetic resonance imaging (MRI) showed left microphthalmia. Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular septal defect, patent ductus arteriosis (PDA), and right mild hydronephrosis. In the second case, a male infant was born at 39 + 5 weeks gestation and demonstrated a dysmorphic appearance with an irregular left pupil and ptosis. Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole. The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure disorder, and micropenis. Both cases revealed multiple anomalies including nearly all major and minor criteria of CHARGE syndrome which could be life-threatening to neonates. Thus, all neonates with ocular colobomas should have fully and detailed systemic examinations checking all minor criteria and even occasional findings of CHARGE syndrome.

Retinopathy With Variant of Unknown Significance and Atypical Chorioretinal Coloboma in the Setting of Prematurity.

A 37-week-old girl underwent ophthalmic examination. Born at 32 weeks, the infant weighed 680 grams and received high-flow nasal cannula for respiratory distress of the newborn. Dilated fundus examination of the right eye revealed an atypical chorioretinal coloboma; the left eye revealed hyperpigmentary changes in the macula. Fluorescein angiography of both eyes showed retinal vascularization to zone II. Genetic testing revealed a heterozygous variant of uncertain significance in the catenin Alpha 1 (CTNNA1) gene. CTNNA1 gene abnormalities have been implicated as causes of familial exudative vitreoretinopathy (FEVR). It is important to recognize possible simultaneous retinopathy of prematurity and FEVR. [Ophthalmic Surg Lasers Imaging Retina 2024;55:285-288.].

Macular atrophy and focal choroidal excavation in a patient with JAG1- related alagille syndrome.

INTRODUCTION: Alagille syndrome (AGS) is a genetic disease with multisystemic affection, including ocular manifestations. Recently, a high frequency of posterior segment findings, including macular changes, has been reported. This publication aims to report an unusual finding of macular atrophy and a focal choroidal excavation in a patient with JAG1 related AGS. METHODS: Case report. RESULTS: This publication describes an atypical presentation of focal choroidal excavation (FCE) and unilateral macular atrophy in a 7-year-old male with Alagille syndrome (AGS). Genetic analysis revealed a pathogenic variant in the JAG1 gene. Ophthalmological examination and imaging findings demonstrated characteristic ocular manifestations of AGS, including posterior embryotoxon, chorioretinal atrophy, and thinning of the choroid. CONCLUSION: The presence of FCE in AGS is uncommon, and the underlying mechanisms remain unclear. Further exploration of similar cases is necessary to better understand the evolution and visual prognosis in patients with AGS and FCE.

This case report highlights the presence of focal choroidal excavation and unilateral macular atrophy in a patient with Alagille syndrome. The genetic analysis identified a pathogenic variant in the JAG1 gene.