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Article

Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?

by
Camilla Rocca
1,†,
Lucia Tiberi
1,2,†,
Sara Bargiacchi
2,
Viviana Palazzo
2,
Samuela Landini
2,
Elisa Marziali
3,
Roberto Caputo
3,
Francesca Tinelli
4,
Viviana Marchi
4,
Alessandro Benedetto
4,
Angelica Pagliazzi
2 and
Giacomo Maria Bacci
3,*
1
Department of Biomedical Experimental and Clinical Sciences “Mario Serio”, University of Florence, 50121 Florence, Italy
2
Medical Genetics Unit, Meyer University Hospital, 50139 Florence, Italy
3
Pediatric Ophthalmology Unit, Children’s Hospital A, Meyer-University of Florence, 50139 Florence, Italy
4
Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Int. J. Mol. Sci. 2022, 23(14), 7825; https://doi.org/10.3390/ijms23147825
Submission received: 14 May 2022 / Revised: 12 July 2022 / Accepted: 13 July 2022 / Published: 15 July 2022
(This article belongs to the Special Issue Ocular Disorders: From Age-Related to Genetically Determined Conditions)
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Abstract

Oculocutaneous albinism is an autosomal recessive disorder characterized by the presence of typical ocular features, such as foveal hypoplasia, iris translucency, hypopigmented fundus oculi and reduced pigmentation of skin and hair. Albino patients can show significant clinical variability; some individuals can present with only mild depigmentation and subtle ocular changes. Here, we provide a retrospective review of the standardized clinical charts of patients firstly addressed for evaluation of foveal hypoplasia and slightly subnormal visual acuity, whose diagnosis of albinism was achieved only after extensive phenotypic and genotypic characterization. Our report corroborates the pathogenicity of the two common TYR polymorphisms p.(Arg402Gln) and p.(Ser192Tyr) when both are located in trans with a pathogenic TYR variant and aims to expand the phenotypic spectrum of albinism in order to increase the detection rate of the albino phenotype. Our data also suggest that isolated foveal hypoplasia should be considered a clinical sign instead of a definitive diagnosis of an isolated clinical entity, and we recommend deep phenotypic and molecular characterization in such patients to achieve a proper diagnosis.
Keywords: foveal hypoplasia; OCA; TYR; misrouting; VEP; Trios-WES; hypomorphic allele; good BCVA; albinism foveal hypoplasia; OCA; TYR; misrouting; VEP; Trios-WES; hypomorphic allele; good BCVA; albinism

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MDPI and ACS Style

Rocca, C.; Tiberi, L.; Bargiacchi, S.; Palazzo, V.; Landini, S.; Marziali, E.; Caputo, R.; Tinelli, F.; Marchi, V.; Benedetto, A.; et al. Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist? Int. J. Mol. Sci. 2022, 23, 7825. https://doi.org/10.3390/ijms23147825

AMA Style

Rocca C, Tiberi L, Bargiacchi S, Palazzo V, Landini S, Marziali E, Caputo R, Tinelli F, Marchi V, Benedetto A, et al. Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist? International Journal of Molecular Sciences. 2022; 23(14):7825. https://doi.org/10.3390/ijms23147825

Chicago/Turabian Style

Rocca, Camilla, Lucia Tiberi, Sara Bargiacchi, Viviana Palazzo, Samuela Landini, Elisa Marziali, Roberto Caputo, Francesca Tinelli, Viviana Marchi, Alessandro Benedetto, and et al. 2022. "Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?" International Journal of Molecular Sciences 23, no. 14: 7825. https://doi.org/10.3390/ijms23147825

APA Style

Rocca, C., Tiberi, L., Bargiacchi, S., Palazzo, V., Landini, S., Marziali, E., Caputo, R., Tinelli, F., Marchi, V., Benedetto, A., Pagliazzi, A., & Bacci, G. M. (2022). Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist? International Journal of Molecular Sciences, 23(14), 7825. https://doi.org/10.3390/ijms23147825

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