SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies

Mauri, Lucia; Barone, Luca; Oum, Muna Al; Longo, Alessandra; Piozzi, Elena; Manfredini, Emanuela; Stanzial, Franco; Benedicenti, Francesco; Penco, Silvana; Patrosso, Maria Cristina

doi:10.1016/j.gene.2013.09.053

Cited by 11 publications

(10 citation statements)

References 18 publications

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“…4–6 OCA3 (MIM #203290) occurs with mutations on the TYRP1 gene (encoding tyrosinase-related protein 1) and is often characterized by a milder phenotype with nearly normal hair and skin pigmentation relative to OCA1 and OCA2, 7 whereas OCA4 (MIM #606574) is caused by SLC45A2 mutations and demonstrates a variable phenotype spanning the entire spectrum of hair and iris color permutations. 8 Finally, OCA is rarely associated with syndromes that necessitate systemic evaluation, including Chediak–Higashi and Hermansky–Pudlak syndromes. 9,10 …”

Section: Introductionmentioning

confidence: 99%

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Clinical Insights Into Foveal Morphology in Albinism

McCafferty¹,

Wilk²,

McAllister³

et al. 2015

J Pediatr Ophthalmol Strabismus

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Purpose A hallmark of albinism is foveal hypoplasia. However, literature suggests variable foveal development. This study evaluates the association between ocular phenotype and foveal morphology to demonstrate the broad structural and functional spectrum. Methods Best-corrected visual acuity (BCVA), nystagmus, angle kappa, stereoacuity, iris transillumination, macular melanin presence, foveal avascular zone, and annular reflex were recorded in 14 patients with albinism. Spectral-domain optical coherence tomography provided macular images. Results The clinical phenotype was broad, with BCVA varying from 20/20 to 20/100. Better BCVA was associated with a preserved foveal avascular zone, annular macular reflex, stereoacuity, and macular melanin. Imaging demonstrated a continuum of foveal development correlating with BCVA. Individuals with a rudimentary pit had normal inner and outer segment lengthening and better BCVA. Conclusions The spectrum of ocular structure and visual function in albinism is broad, suggesting a possible diagnosis of albinism in a patient with an even more normal clinical presentation.

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Section: Introductionmentioning

confidence: 99%

“…8,12–17 Creel et al 18 used visual evoked potentials and others have used functional magnetic resonance imaging 19 to show excessive retinostriate decussation in albinism. 20 Most individuals with albinism have a positive angle kappa.…”

Section: Introductionmentioning

confidence: 99%

Clinical Insights Into Foveal Morphology in Albinism

McCafferty¹,

Wilk²,

McAllister³

et al. 2015

J Pediatr Ophthalmol Strabismus

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“…Some studies report absence of nystagmus in some patients. 8,9,12,14,16,17,18,19 Visual acuities in OCA4 patients in earlier reports ranged from − 0.1 to 1.5 logMAR, with most patients having poor VA. 8,17,25,5,38,13,15,24,27 Only three patients were described with normal VA, and all three had only mild or no hypopigmentation. 8,17,25 Rundshagen et al described a patient with VA of 0.2 logMAR, subtle hypopigmentation, and nystagmus.…”

Section: Discussionmentioning

confidence: 87%

“…In contrast to the homogeneous hypopigmentation phenotype we found in our cohort, in the literature the degree of pigmentation seems to vary from complete lack of pigmentation to very mild hypopigmentation. 1,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29 While most reports describe pigmentation levels of skin and hair, ophthalmic details are usually scarce. Some studies report absence of nystagmus in some patients.…”

Section: Discussionmentioning

confidence: 99%

“…4 Since then, many patients have been described with variable phenotypes, from complete absence of pigmentation to subtle hypopigmentation only. 1,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29 World prevalence of OCA4 is estimated around 1:100.000, which is 3-19% of all OCA cases. 5,17,30,7,14,15,24,25,31,32 In Japan OCA4 is more common, with a frequency of 27% of all OCA cases.…”

Section: Introductionmentioning

confidence: 99%

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An Unusual Phenotype in Dutch Patients With Oculocutaneous Albinism Type 4: Evident Hypopigmentation Without Other Ocular Deficits.

Kruijt

Schalij‐Delfos

Wit

et al. 2021

Preprint

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Purpose: To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4).Patients and Methods: We collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Dutch OCA4 patients from the Bartiméus Diagnostic Center for complex visual disorders.Results: All patients had severely reduced pigmentation of skin, hair, and eyes with iris transillumination over 360 degrees. Three unrelated OCA4 patients had normal VA, no nystagmus, no foveal hypoplasia, and no misrouting of the visual pathways. Six patients had poor visual acuity (0.6 to 1.0 logMAR), nystagmus, severe foveal hypoplasia and misrouting. We found two novel mutations in the SLC45A2 gene, c.310C>T; p.(Pro104Ser), and c.1368+3_1368+9del p.(?).Discussion: OCA4 patients of this Dutch cohort all had hypopigmentation of skin, hair, and iris translucency. However, patients were either severely affected with regard to visual acuity, foveal hypoplasia, and misrouting, or visually not affected at all. We describe for the first time OCA4 patients with an evident lack of pigmentation, but normal visual acuity, normal foveal development and absence of misrouting. This implies that absence of melanin does not invariably lead to foveal hypoplasia and abnormal routing of the visual pathways.

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Oculocutaneous Albinism

Orfanos¹

2018

Pigmented Ethnic Skin and Imported Dermatoses

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SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies

Cited by 11 publications

References 18 publications

Clinical Insights Into Foveal Morphology in Albinism

Clinical Insights Into Foveal Morphology in Albinism

An Unusual Phenotype in Dutch Patients With Oculocutaneous Albinism Type 4: Evident Hypopigmentation Without Other Ocular Deficits.

Oculocutaneous Albinism

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