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Case Report

Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report

by
Mirjana Bjeloš
1,2,3,
Ana Ćurić
1,3,
Mladen Bušić
1,2,3,*,
Benedict Rak
1 and
Biljana Kuzmanović Elabjer
1,2,3
1
University Eye Department, Reference Center of the Ministry of Health of the Republic of Croatia for Inherited Retinal Dystrophies, Reference Center of the Ministry of Health of the Republic of Croatia for Pediatric Ophthalmology and Strabismus, University Hospital “Sveti Duh”, 10000 Zagreb, Croatia
2
Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia
3
Faculty of Dental Medicine and Health Osijek, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2024, 25(12), 6442; https://doi.org/10.3390/ijms25126442
Submission received: 3 April 2024 / Revised: 5 June 2024 / Accepted: 10 June 2024 / Published: 11 June 2024
(This article belongs to the Special Issue Molecular Insight into Retinal Diseases)

Abstract

We present a case involving a patient whose clinical phenotype aligns with oculocutaneous albinism (OCA), yet exhibits a complex genotype primarily characterized by variants of unknown significance (VUS). An 11-year-old boy manifested iris hypopigmentation and translucency, pronounced photophobia, diminished visual acuity and stereopsis, nystagmus, reduced pigmentation of the retina, and foveal hypoplasia. Genetic testing was performed. A heterozygous missense VUS CAPN5 c.230A>G, p.(Gln77Arg), a heterozygous missense VUS TYR c.1307G>C, p.(Gly436Ala), and a heterozygous missense variant TYR c.1205G>A, p.(Arg402Gln) which was classified as a risk factor, were identified. We hypothesized that the TYR c.1307G>C, p.(Gly436Ala) variant is in genetic disequilibrium with the TYR c.1205G>A, p.(Arg402Gln) variant leading to deficient expression of melanogenic enzymes in retinal cells, resulting in the manifestation of mild OCA. Additionally, this study represents the case where we did not detect chiasmal misrouting in visual evoked potentials, nor did we observe a shift in the distribution of ganglion cell thickness from a temporal to a central position. Moreover, our patient’s case supports the probable benign nature of the CAPN5 c.230A>G, p.(Gln77Arg) variant.
Keywords: retinal diseases; ERG; VEP; microperimetry; OCT-A retinal diseases; ERG; VEP; microperimetry; OCT-A

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MDPI and ACS Style

Bjeloš, M.; Ćurić, A.; Bušić, M.; Rak, B.; Kuzmanović Elabjer, B. Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report. Int. J. Mol. Sci. 2024, 25, 6442. https://doi.org/10.3390/ijms25126442

AMA Style

Bjeloš M, Ćurić A, Bušić M, Rak B, Kuzmanović Elabjer B. Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report. International Journal of Molecular Sciences. 2024; 25(12):6442. https://doi.org/10.3390/ijms25126442

Chicago/Turabian Style

Bjeloš, Mirjana, Ana Ćurić, Mladen Bušić, Benedict Rak, and Biljana Kuzmanović Elabjer. 2024. "Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report" International Journal of Molecular Sciences 25, no. 12: 6442. https://doi.org/10.3390/ijms25126442

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