case_images: PMC11002465_01
case_images: Pedigree of patient 1
case_images: mehdiophth-12-203-g001.jpg
case_images: PMC11002465_01_mehdiophth-12-203-g001.jpg
case_images: F1
case_images: Figure 1 displays the pedigree [] of the patient.
case_images: Fundus photographs (VISUCAM NM/FA; Carl Zeiss Meditec AG, Jena, Germany) of the right (A) and left (B) eyes revealed a depigmented yellow lesion (black arrows) in each macula, measuring < 1/4 disc diameter in greatest dimension, with distinct and well-defined margins. Fundus autofluorescence (VISUCAM NM/FA; Carl Zeiss Meditec AG) revealed an oval subretinal autofluorescent deposit presenting as a single lesion (red arrows) in the central macula of the right (C) and left (D) eyes. Fluorescein fundus angiography (VISUCAM NM/FA; Carl Zeiss Meditec AG) revealed early hyperfluorescence in the corresponding areas due to window defects and minor hypofluorescence without evidence of leakage in the right (E) and left (F) eyes (red circles)
case_images: mehdiophth-12-203-g002.jpg
case_images: PMC11002465_01_mehdiophth-12-203-g002.jpg
case_images: F2
case_images: Fundus examination using a slit lamp (Topcon SL-D301; Topcon Corp.) with a 78 diopter lens (Volk Optical Inc., Mentor, OH, USA) revealed a yellowish lesion at the center of each macula, measuring < 1/4 disc diameter in greatest dimension, with distinct and well-defined margins (Figure 2A, B). Fundus autofluorescence (VISUCAM NM/FA; Carl Zeiss Meditec AG, Jena, Germany) showed autofluorescent lesions in the corresponding areas (Figure 2C, D), whereas fluorescein fundus angiography (VISUCAM NM/FA; Carl Zeiss Meditec AG) showed early hyperfluorescence in the foveas due to window defects and minor hypofluorescence without evidence of leakage (Figure 2E, F). 
case_images: Optical coherence tomography (Copernicus HR-SOCT; Optopol Technology SA, Zawiercie, Poland) revealed a subfoveal, hyperreflective lesion (yellow circles) in the outer layers of the macula in the right (A) and left (B) eyes. A multifocal electroretinogram (Ganzfeld Q450; Roland Consult Stasche & Finger GmbH, Brandenburg/Havel, Germany) revealed diffusive and emphasized amplitude reduction in the P1 waves (blue circles) and emphasized reduction of the cone response (red circles) in the macula of both the right (C) and left (D) eyes. A slightly concentrically narrowed visual field (Manual Goldmann Perimeter 940; Haag-Streit, Koeniz, Switzerland) was detected in the right (E) and left (F) eyes
case_images: mehdiophth-12-203-g003.jpg
case_images: PMC11002465_01_mehdiophth-12-203-g003.jpg
case_images: F3
case_images: Optical coherence tomography (OCT) (Copernicus HR-SOCT; Optopol Technology SA, Zawiercie, Poland) revealed subfoveal, oval, and dense deposits and disruption of the ellipsoid zone and external limiting membrane (Figure 3A, B). Arden ratio of 3/2.5 []. A multifocal electroretinogram (Ganzfeld Q450; Roland Consult Stasche & Finger GmbH) revealed diffusive and emphasized amplitude reduction in the P1 waves for both eyes (Figure 3C, D). The visual field (Manual Goldmann Perimeter 940; Haag-Streit) was slightly concentrically narrowed in both eyes (Figure 3E, F). 
case_images: PMC11002465_02
case_images: Pedigree of patient 2
case_images: mehdiophth-12-203-g004.jpg
case_images: PMC11002465_02_mehdiophth-12-203-g004.jpg
case_images: F4
case_images: Figure 4 displays the pedigree [] of the patient.
case_images: Fundus photography (VISUCAM NM/FA; Carl Zeiss Meditec AG, Jena, Germany) of the right (A) and left (B) eyes revealed a depigmented yellow lesion (black arrows) in each macula, the largest measuring < 1/4 disc diameter, with distinct and well-defined margins, along with the retinal pigment epithelium changes in the right macula. Fundus autofluorescence (VISUCAM NM/FA; Carl Zeiss Meditec AG) revealed partially depigmented subretinal autofluorescent deposits presenting as a single macular lesion (red arrows) in the central macula of the right (C) and left (D) eyes. Fluorescein fundus angiography (VISUCAM NM/FA; Carl Zeiss Meditec AG) revealed early hyperfluorescence in the peripheral part of the lesion due to window defects without evidence of leakage, along with blockage in the center of the lesion due to pigment accumulation (clumping) in the right (E) and left (F) eyes (red circles)
case_images: mehdiophth-12-203-g005.jpg
case_images: PMC11002465_02_mehdiophth-12-203-g005.jpg
case_images: F5
case_images: Fundus examination using a slit lamp (Topcon SL-D301; Topcon Corp.) with a 78 diopter lens (Volk Optical, Inc.) revealed a small, round, yellowish lesion at the center of each macula, the largest measuring < 1/4 disc diameter, with distinct and well-defined margins, along with RPE changes in the right macula (Figure 5A, B). Fundus autofluorescence (VISUCAM NM/FA; Carl Zeiss Meditec AG) revealed oval autofluorescent lesions in the corresponding areas (Figure 5C, D), whereas fluorescein fundus angiography (VISUCAM NM/FA; Carl Zeiss Meditec AG) revealed a hypofluorescent blocking lesion in the central macula, surrounded by a narrow zone of early hyperfluorescence due to window defects without evidence of leakage (Figure 5E, F). 
case_images: Optical coherence tomography (Copernicus HR-SOCT; Optopol Technology SA, Zawiercie, Poland) revealed damage to the retinal pigment epithelium, deposits of hyperreflective material, and pigment migration toward the inner layers of the macula of the right (A) and left (B) eyes. A multifocal electroretinogram (Ganzfeld Q450; Roland Consult Stasche & Finger GmbH, Brandenburg/Havel, Germany) revealed the amplitude of P1 waves to be within physiological limits for both eyes and a discrete reduction of cone response more to the periphery (red circle) in the right eye (C), and a normal cone response in the left eye (D). A slightly concentrically narrowed visual field (Manual Goldmann Perimeter 940; Haag-Streit, Koeniz, Switzerland) was found for both the right (E) and left (F) eyes
case_images: mehdiophth-12-203-g006.jpg
case_images: PMC11002465_02_mehdiophth-12-203-g006.jpg
case_images: F6
case_images: OCT (Copernicus HR-SOCT; Optopol Technology SA) revealed subfoveal disorders of the RPE, a disruption of the ellipsoid zone and external limiting membrane, and deposits in the outer layers of the macula (Figure 6A, B). Despite foveal structural changes, a multifocal electroretinogram (Ganzfeld Q450; Roland Consult Stasche & Finger GmbH) showed the amplitude of P1 waves to be within normal limits in both eyes (Figure 6C, D). The visual field (Manual Goldmann Perimeter 940; Haag-Streit) was slightly concentrically narrowed in both eyes (Figure 6E, F).