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Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus

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ABSTRACT

Fundus albipunctatus (FA) is a rare autosomal recessive form of stationary night blindness characterized by the presence of white or white-yellow dots in the perimacular area and the periphery of the retina, with or without macular involvement. In this study, we examined four Chinese families with FA. Patients were given complete ophthalmic examinations, and blood samples were collected for DNA extraction. Three genes, RDH5, RLBP1 and RPE65, were screened by direct sequencing. Mutations in RDH5 were identified in three families and mutations in RPE65 were identified in one family. This is the second reported case of FA caused by mutations in RPE65.

No MeSH data available.


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Fundus imaging of II:6 in family 3.Fundus photograph (A) and multicolor (D) showed lots of white-yellow dots in the perimacular area and the periphery of the retina. IR (B) showed the dots in areas corresponding to fundus photograph. FAF (C) showed the normal image. FFA/ICGA (E) showed the RPE lesions in the retina with preservation of the macular area. OCT (F,G) showed the hyperreflective lesions (arrows) in areas corresponding to dots (arrows) in the perimacular area and atrophy of IS/OS-RPE in the periphery of the retina. Abbreviations: IR. infrared reflectance; FAF. fundus autofluorescence; FFA/ICGA. fundus fluorescein angiography/indocyanine green angiography; OCT. optical coherence tomography; IS/OS.inner-segment/outer-segment; RPE. retinal pigment epithelium.
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f4: Fundus imaging of II:6 in family 3.Fundus photograph (A) and multicolor (D) showed lots of white-yellow dots in the perimacular area and the periphery of the retina. IR (B) showed the dots in areas corresponding to fundus photograph. FAF (C) showed the normal image. FFA/ICGA (E) showed the RPE lesions in the retina with preservation of the macular area. OCT (F,G) showed the hyperreflective lesions (arrows) in areas corresponding to dots (arrows) in the perimacular area and atrophy of IS/OS-RPE in the periphery of the retina. Abbreviations: IR. infrared reflectance; FAF. fundus autofluorescence; FFA/ICGA. fundus fluorescein angiography/indocyanine green angiography; OCT. optical coherence tomography; IS/OS.inner-segment/outer-segment; RPE. retinal pigment epithelium.

Mentions: The patients II-1 in family 1, II-2 in family 2, II-6 in family 3 and II-1 in family 4 showed typical FA on examination. (Figs 1, 2, 3, 4, 5, Table 1). All patients showed white-yellow dots scattered in the periphery of the retina. In addition, II-6 in family 3 showed white-yellow dots scattered in the perimacular area. All affected patients experienced poor night vision at an early age. Infrared reflectance (IR) images showed the dots were in areas corresponding to fundus photograph and fundus autofluorescence (FAF) images are normal. Retinal venous phase images of fundus fluorescein angiography (FFA) of the II-6 in family 3 showed extensive mottled staining hyperfluorescence and crack-like hypofluorescence with preservation of the macular area (Fig. 4). Late phase images of indocyanine green angiography (ICGA) of the II-6 in family 3 showed extensive cord-like hypofluorescence with preservation of the macular area and ring-like hyperfluorescence in the macular area. The OCT of the patients showed a lot of hyper-reflective lesions corresponding to white-yellow dots on fundus. Hyper-reflective lesions extend from the RPE to the external limiting membrane (Figs 2, 3, 4). Visual field of patients showed reduction of sensitivity in the central visual field (Fig. 6). Full field electroretinography (ffERG) showed no rod responses according to the ERG standards of the International Society for Clinical Electrophysiology of Vision (ISCEV, 2008 Version). After prolonged dark adaption (3 h, 10 h), the rod responses almost recovered to normal levels (Fig. 7, Table 2). Physical examinations excluded systemic disorders in all patients.


Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus
Fundus imaging of II:6 in family 3.Fundus photograph (A) and multicolor (D) showed lots of white-yellow dots in the perimacular area and the periphery of the retina. IR (B) showed the dots in areas corresponding to fundus photograph. FAF (C) showed the normal image. FFA/ICGA (E) showed the RPE lesions in the retina with preservation of the macular area. OCT (F,G) showed the hyperreflective lesions (arrows) in areas corresponding to dots (arrows) in the perimacular area and atrophy of IS/OS-RPE in the periphery of the retina. Abbreviations: IR. infrared reflectance; FAF. fundus autofluorescence; FFA/ICGA. fundus fluorescein angiography/indocyanine green angiography; OCT. optical coherence tomography; IS/OS.inner-segment/outer-segment; RPE. retinal pigment epithelium.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC5385556&req=5

f4: Fundus imaging of II:6 in family 3.Fundus photograph (A) and multicolor (D) showed lots of white-yellow dots in the perimacular area and the periphery of the retina. IR (B) showed the dots in areas corresponding to fundus photograph. FAF (C) showed the normal image. FFA/ICGA (E) showed the RPE lesions in the retina with preservation of the macular area. OCT (F,G) showed the hyperreflective lesions (arrows) in areas corresponding to dots (arrows) in the perimacular area and atrophy of IS/OS-RPE in the periphery of the retina. Abbreviations: IR. infrared reflectance; FAF. fundus autofluorescence; FFA/ICGA. fundus fluorescein angiography/indocyanine green angiography; OCT. optical coherence tomography; IS/OS.inner-segment/outer-segment; RPE. retinal pigment epithelium.
Mentions: The patients II-1 in family 1, II-2 in family 2, II-6 in family 3 and II-1 in family 4 showed typical FA on examination. (Figs 1, 2, 3, 4, 5, Table 1). All patients showed white-yellow dots scattered in the periphery of the retina. In addition, II-6 in family 3 showed white-yellow dots scattered in the perimacular area. All affected patients experienced poor night vision at an early age. Infrared reflectance (IR) images showed the dots were in areas corresponding to fundus photograph and fundus autofluorescence (FAF) images are normal. Retinal venous phase images of fundus fluorescein angiography (FFA) of the II-6 in family 3 showed extensive mottled staining hyperfluorescence and crack-like hypofluorescence with preservation of the macular area (Fig. 4). Late phase images of indocyanine green angiography (ICGA) of the II-6 in family 3 showed extensive cord-like hypofluorescence with preservation of the macular area and ring-like hyperfluorescence in the macular area. The OCT of the patients showed a lot of hyper-reflective lesions corresponding to white-yellow dots on fundus. Hyper-reflective lesions extend from the RPE to the external limiting membrane (Figs 2, 3, 4). Visual field of patients showed reduction of sensitivity in the central visual field (Fig. 6). Full field electroretinography (ffERG) showed no rod responses according to the ERG standards of the International Society for Clinical Electrophysiology of Vision (ISCEV, 2008 Version). After prolonged dark adaption (3 h, 10 h), the rod responses almost recovered to normal levels (Fig. 7, Table 2). Physical examinations excluded systemic disorders in all patients.

View Article: PubMed Central - PubMed

ABSTRACT

Fundus albipunctatus (FA) is a rare autosomal recessive form of stationary night blindness characterized by the presence of white or white-yellow dots in the perimacular area and the periphery of the retina, with or without macular involvement. In this study, we examined four Chinese families with FA. Patients were given complete ophthalmic examinations, and blood samples were collected for DNA extraction. Three genes, RDH5, RLBP1 and RPE65, were screened by direct sequencing. Mutations in RDH5 were identified in three families and mutations in RPE65 were identified in one family. This is the second reported case of FA caused by mutations in RPE65.

No MeSH data available.


Related in: MedlinePlus