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Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

ABSTRACT: PURPOSE: To characterize the genetic defects associated with fundus albipunctatus (FAP) in patients in Israel. METHODS: Twenty patients with FAP from diverse ethnicities underwent ophthalmic and electroretinogram tests following the International Society for Clinical Electrophysiology of Vision protocol. Genomic DNA was extracted from peripheral blood. Mutation analysis of the 11-cis retinol dehydrogenase (RDH5) gene was performed with direct sequencing of PCR-amplified exons. RESULTS: Four novel RDH5 gene mutations were identified. Of them, the null mutations c.343C>T (p.R54X) and c.242delTGCC were most prevalent. Macular involvement was present in two patients who carry different mutation types. CONCLUSIONS: Mutation analysis of the RDH5 gene in the present series revealed four novel mutations and a previously reported one. No significant genotype-phenotype correlation was found.

SUBMITTER: Pras E

PROVIDER: S-EPMC3399783 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

Pras Eran E Pras Elon E Reznik-Wolf Haike H Sharon Dror D Raivech Svetlana S Barkana Yaniv Y Abu-Horowitz Almogit A Ygal Rotenstreich R Banin Eyal E

Molecular vision 20120623

<h4>Purpose</h4>To characterize the genetic defects associated with fundus albipunctatus (FAP) in patients in Israel.<h4>Methods</h4>Twenty patients with FAP from diverse ethnicities underwent ophthalmic and electroretinogram tests following the International Society for Clinical Electrophysiology of Vision protocol. Genomic DNA was extracted from peripheral blood. Mutation analysis of the 11-cis retinol dehydrogenase (RDH5) gene was performed with direct sequencing of PCR-amplified exons.<h4>Re ...[more]

PMID: 22815624

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Project description:Fundus albipunctatus (FA) is a form of congenital stationary night blindness characterized by yellow-white spots, which were classically described as subretinal. Although night blindness and delayed dark adaptation are hallmarks of this condition, recent studies have described a macular phenotype, particularly among older patients. Using a fluorescence adaptive optics scanning laser ophthalmoscope (FAOSLO), this study provides in vivo morphologic data at the cellular level in FA.To study the cone photoreceptors and the albipunctate spots in FA at single-cell resolution.A woman in her 30s with FA underwent a complete ophthalmic examination, including conventional imaging tests, at the University of Rochester. A FAOSLO was used to obtain infrared reflectance images of the cone mosaic at the central fovea and along the superior and temporal meridians to 10° eccentricity. Cone density was measured at the foveal center, and cone spacing was calculated in sampling windows eccentrically. In the area of the albipunctate spots, autofluorescence FAOSLO images (excitation, 561 nm; emission, 624 ? 40 nm) were simultaneously obtained.Structural appearance of cones, cone density and spacing, and reflectance and autofluorescence of albipunctate spots.Cone density was reduced to 70% of the lower limit of the normal range at the foveal center (78.7 × 10(3) cones/mm(2); mean [SD] reference range, 199 [87] × 10(3) cones/mm(2)), and cone spacing was increased eccentrically to 10° (sign test, P =?.045). Individual cone central core reflectances appeared dim, suggesting loss of photoreceptor outer segments. The albipunctate spots were hypoautofluorescent. No photoreceptors or retinal pigment epithelium cells were identified at the locations of the albipunctate spots.Although the predominant clinical symptom of night blindness and the electroretinography results suggest a primary rod dysfunction, examination with a FAOSLO demonstrates that cone density is also reduced. This finding may represent an early sign of progression to macular phenotype in FA. The hypoautofluorescence suggests that the albipunctate spots do not represent lipofuscin.

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Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

Publications

Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

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