Article Category: Case Reports
Published Online: Aug 11, 2021
Page range: 76 - 80
Received: Oct 05, 2020
Accepted: Nov 20, 2020
DOI: https://doi.org/10.2478/amb-2021-0027
Keywords
© 2021 I. Mermeklieva et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Objective
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.
Results
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.
Conclusion
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.