PMC10451074_01
Fundus images of the patient (III-1). (A) Binocular scanning laser ophthalmoscope (SLO) and fundus autofluorescence (AF) in January 2022: SLO showed that the macular area of the fundus was dark and no foveal reflection was found in both eyes, AF examination showed low autofluorescence in the macular region and annular high autofluorescence around the macula. (B) OCT images around the macular area in Bilateral eyes from 2015 to 2022: OCT showed that: the thickness of splitting central fovea was 465 mum in the right eye and 473 mum in the left eye on April 14, 2015; the foveal thickness was 534 mum in the right eye and 578 mum in the left eye on November 17, 2015; the foveal thickness was 525(-8) mum in the right eye and 563(-14) mum in the left eye on June 27, 2016; the foveal thickness was 480(-48) mum in the right eye and 525(-36) mum in the left eye on December 21, 2016; the foveal thickness was 575(+92) mum in the right eye and 527 mum in the left eye on August 15, 2017; the foveal thickness was 401(-179) mum in the right eye and 364(-162) mum in the left eye in September 5, 2017; the foveal thickness was 369 mum in the right eye and 345 mum in the left eye in June 8, 2018; the foveal thickness was 220(-148) mum in the right eye and 231(-144) mum in the left eye in May 18, 2019; the foveal thickness was 207(-15) mum in the right eye and 215(-11) mum in the left eye in July 16, 2020; the foveal thickness was 166 mum in the right eye and 167 mum in the left eye in January 25, 2022; the specific check time is marked in the upper left corner of the picture; the values in parentheses represent the difference of average thickness at foveal area compared with the last examination. (C) Results of B-ultrasound examination of both eyes from 2016 to 2022: B-ultrasound showed mild vitreous opacity in both eyes; the posterior pole of both eyes was thickened and rough on December 21, 2016 with mild vitreous opacity in both eyes after September 5, 2017.
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fig1
SLO showed that the macular area of the fundus was dark and the foveal reflection was not reached in both eyes (Figure 1A). OCT showed that the foveal thickness was 166 mum(micrometre) in the right eye and 167 mum in the left eye (Figure 1B). B-ultrasonography revealed vitreous opacities (small amounts) in both eyes (Figure 1C). The morphology of the fovea returned to almost normal in 2020 (Figure 1B).
Results of binocular ERG (A) and VEP (B) in 2022; Binocular visual field examination (C) in patient from 2018 to 2022. (A) The results of ERG showed that OD (oculus dexter): scotopic white 24 dB (decibel) flash: amplitude = 68 muV (microvolt), time = 26.5 ms; scotopic white 0 dB flash: a wave = -211.0 muV, time = 13 ms; b wave = 269.8 muV, time = 24.5 ms; OP amplitude = 143.9 muV; white photopic:white 0 dB flash: amplitude = 77.2 muV, time = 22 ms; white 0 dB flicker 30 Hz: amplitude = 42.8 muV, time = 38 ms. OS (oculus sinister): scotopic white 24 dB Flash:amplitude = 105.2 muV, time = 22 ms; scotopic white 0 dB flash: a wave = -138.2.0 muV, time = 21 ms; b wave = 114.1.8 muV, time = 24 ms; OP amplitude = 137.0 muV; white photopic:white 0 dB flash:amplitude = 55.5 muV, time = 18 ms; white 0 dB flicker 30 Hz: amplitude = 48.7 muV, time = 37 ms. (B) The results of VEP showed that amp = 12.9 muV, time = 26.0 ms (millisecond) in the right eye and amp = 12.9 muV, time = 30.0 ms in the left eye. (C) The results of visual field examination (central 30-2 threshold test) showed that the VFI (vision field index) of the right eye was 41% and the VFI of the left eye was 33% on September 11, 2018. The results of visual field examination (central 24-2 threshold test) showed that the VFI of the right eye was 39% and the VFI of the left eye was 70% on May 30, 2019. The results of visual field examination (central 24-2 threshold test) showed that the VFI = 95% in the right eye and 97% in the left eye on January 25, 2022.
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fig2
Binocular flash ERG showed a mild to moderate decrease in rod response amplitude, a decrease in maximum mixed response amplitude, a decrease in negative b wave (b wave was more obvious than a wave), a normal oscillatory potential, and a slight decrease in cone and 30 Hz flicker response amplitude (Figure 2A). Color vision and VEP studies were unremarkable (Figure 2B). The results of visual field examination showed that the visual field of both eyes had improved compared with the visual field before May 30, 2019 (Figure 2C).
Family diagram and CRB1 gene mutation. (A) Family chart   female patient;   normal male;   normal female;   proband; (B) Validation diagram of CRB1 mutant generation.
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fig3
The family diagram is shown in Figure 3.