Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations

Joint Authors

Schorderet, Daniel F.
Falfoul, Yousra
Habibi, Imen
Turki, Ahmed
Hassairi, Asma
El Matri, Leila
Chebil, Ahmed

Source

Journal of Ophthalmology

Issue

Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-7, 7 p.

Publisher

Hindawi Publishing Corporation

Publication Date

2018-03-15

Country of Publication

Egypt

No. of Pages

7

Main Subjects

Medicine

Abstract EN

To assess the progression of Stargardt (STGD) disease over nine years in two branches of a large consanguineous Tunisian family.

Initially, different phenotypes were observed with clinical intra- and interfamilial variations.

At presentation, four different retinal phenotypes were observed.

In phenotype 1, bull’s eye maculopathy and slight alteration of photopic responses in full-field electroretinography were observed in the youngest child.

In phenotype 2, macular atrophy and yellow white were observed in two brothers.

In phenotype 3, diffuse macular, peripapillary, and peripheral RPE atrophy and hyperfluorescent dots were observed in two sisters.

In phenotype 4, Stargardt disease-fundus flavimaculatus phenotype was observed in two cousins with later age of onset.

After a progression of 9 years, all seven patients displayed the same phenotype 3 with advanced stage STGD and diffuse atrophy.

WES and MLPA identified two ABCA4 mutations M1: c.[(?_4635)_(5714+?)dup; (?_6148)_(6479_+?) del] and M2: c.[2041C>T], p.[R681∗].

In one branch, the three affected patients had M1/M1 causal mutations and in the other branch the two affected patients had M1/M2 causal mutations.

After 9-year follow-up, all patients showed the same phenotypic evolution, confirming the progressive nature of the disease.

Genetic variations in the two branches made no difference to similar end-stage disease.

American Psychological Association (APA)

Falfoul, Yousra& Habibi, Imen& Turki, Ahmed& Chebil, Ahmed& Hassairi, Asma& Schorderet, Daniel F.…[et al.]. 2018. Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations. Journal of Ophthalmology،Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1196125

Modern Language Association (MLA)

Falfoul, Yousra…[et al.]. Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations. Journal of Ophthalmology No. 2018 (2018), pp.1-7.
https://search.emarefa.net/detail/BIM-1196125

American Medical Association (AMA)

Falfoul, Yousra& Habibi, Imen& Turki, Ahmed& Chebil, Ahmed& Hassairi, Asma& Schorderet, Daniel F.…[et al.]. Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations. Journal of Ophthalmology. 2018. Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1196125

Data Type

Journal Articles

Language

English

Notes

Includes bibliographical references

Record ID

BIM-1196125