<abstract xmlns="http://www.w3.org/1999/xhtml">

<sec><h3>Objective</h3><p>To describe a clinical case of rare eye diseases – Stargardt’s disease. Material and methods: A detailed clinical examination, fundus autofluorescence, optical coherence tomography and electrophysiological studies were performed. The clinical diagnosis was also genetically confirmed.</p></sec>
<sec><h3>Results</h3><p>A classic Stargardt’s disease phenotype was found in a 10-year old boy with decreased visual acuity, atrophy of the photoreceptors and retinal pigment epithelium layers in the macula, plus hypoautofluorescence in the fovea. In full-field ERG there was no diffuse cone involvement. Multifocal ERG demonstrated a lower cone activity in the area of the central macula in both eyes, which is characteristic for hereditary maculopathies and differentiates them from cone-rod dystrophies, in which generalized damage of the photoreceptors in the retina may be observed. The genetic studies identified two missense mutations: c.3113C> T (p.Ala1038Val) and c.1622T> C (p.Leu541Pro) in a cis-position and a missense mutation c.2588G> C (p.Gly863Ala) in the other allele of ABCA4 gene. The two pathogenic variants c.3113C> T and c.1622T> C formed a complex allele p. [A1038V; L541P], which was found in the genome of the asymptomatic mother. The other mutation c.2588G> C affects a highly conserved amino acid from the ABCA4 protein (p.Gly863Ala) and was inherited from the patient’s clinically healthy father, who was a heterozygous carrier.</p></sec>
<sec><h3>Conclusion</h3><p>The comprehensive clinical, electrophysiological and genetic testing of patients with rare hereditary retinal dystrophies is essential for the correct diagnosis and the choice of therapeutic behavior.</p></sec>
</abstract>

ObjectiveTo describe a clinical case of rare eye diseases – Stargardt’s disease. Material and methods: A detailed clinical examination, fundus autofluorescence, optical coherence tomography and electrophysiological studies were performed. The clinical diagnosis was also genetically confirmed.
ResultsA classic Stargardt’s disease phenotype was found in a 10-year old boy with decreased visual acuity, atrophy of the photoreceptors and retinal pigment epithelium layers in the macula, plus hypoautofluorescence in the fovea. In full-field ERG there was no diffuse cone involvement. Multifocal ERG demonstrated a lower cone activity in the area of the central macula in both eyes, which is characteristic for hereditary maculopathies and differentiates them from cone-rod dystrophies, in which generalized damage of the photoreceptors in the retina may be observed. The genetic studies identified two missense mutations: c.3113C> T (p.Ala1038Val) and c.1622T> C (p.Leu541Pro) in a cis-position and a missense mutation c.2588G> C (p.Gly863Ala) in the other allele of ABCA4 gene. The two pathogenic variants c.3113C> T and c.1622T> C formed a complex allele p. [A1038V; L541P], which was found in the genome of the asymptomatic mother. The other mutation c.2588G> C affects a highly conserved amino acid from the ABCA4 protein (p.Gly863Ala) and was inherited from the patient’s clinically healthy father, who was a heterozygous carrier.
ConclusionThe comprehensive clinical, electrophysiological and genetic testing of patients with rare hereditary retinal dystrophies is essential for the correct diagnosis and the choice of therapeutic behavior.

A Rare Case of Stargardt’s Disease

Medical Faculty, University „Sv. Kliment Ohridski“

Center of Molecular Medicine, Department of Medical Chemistry and Biochemistry

Acta Medica Bulgarica

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

{"article-title":"A Rare Case of Stargardt\u2019s Disease"}

ObjectiveTo describe a clinical case of rare eye diseases – Stargardt’s disease. Material and methods: A detailed clinical examination, fundus...

A Rare Case of Stargardt’s Disease

Article Category: Case Reports

Pubblicato online: 11 ago 2021

Pagine: 76 - 80

Ricevuto: 05 ott 2020

Accettato: 20 nov 2020

DOI: https://doi.org/10.2478/amb-2021-0027

Parole chiave
hereditary retinal dystrophy, Stargardt’s disease, electrophysiology, genetics

© 2021 I. Mermeklieva et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

A Rare Case of Stargardt’s Disease

Article Category: Case Reports

Pubblicato online: 11 ago 2021

Pagine: 76 - 80

Ricevuto: 05 ott 2020

Accettato: 20 nov 2020

DOI: https://doi.org/10.2478/amb-2021-0027

Parole chiavehereditary retinal dystrophy, Stargardt’s disease, electrophysiology, genetics

© 2021 I. Mermeklieva et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Parole chiave
hereditary retinal dystrophy, Stargardt’s disease, electrophysiology, genetics