Analysis of the Refractive Profile of Children with Oculocutaneous Albinism versus an Age-Matched Non-Albino Group

Sayed, Khulood Muhammad; Abdellah, Marwa Mahmoud; Kamel, Ahmad Gad

doi:10.2147/opth.s286126

Cited by 5 publications

(6 citation statements)

References 22 publications

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“…In comparison to this study, our study showed almost similar results except we use retinoscope rather than auto refractometer for cyclopig refraction and determination of accurate axes of astigmatism. 15 Regarding refractive errors, some studies revealed that hypermetropia was most commonly present, other studies showed myopia was most frequent while few others reported equal prevalence of both refractive errors in OCA patients. 14 Eballé AO in 2013 conducted a study in Cameroonians population.…”

Section: Discussionmentioning

confidence: 99%

Patterns of refractive errors in albino patients in pediatric age group.

Qayyum

Ajmal²,

Chaudhary

et al. 2023

TPMJ

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Objective: To evaluate the patterns of refractive errors in albino patients in pediatric age group and to find out the most common refractive error in these patients. Study Design: Cross-sectional study. Setting: Recruited all patients who visited Eye OPD of The Children’s Hospitals and The Institute of Child Healths, Lahore and Multan. Period: July 2021 to December 2021. Material & Methods: Between the ages of 02 to 12 years. The participants presented with oculocutaneous albinism (OCA) were included and the participants with ocular pathologies like congenital cataract, retinopathy of prematurity, buphthalmos etc were excluded. Cycloplegic refraction was done to evaluate the refractive errors and fundoscopy was done to find out ocular pathology. Non-probability convenient technique was used. Chi square test was used for statistical analysis. Results: This study recruited 22 patients with OCA between the ages of 02-12 years (mean age: 6.86 ± 3.385), 13 were male patients and 09 were female patients. 19 patients (86.36 %) had visual acuity (VA) fix and follow the light and 03 (13.64 %) patients were not able to fix and follow the light. Most of the patients have moderate type of refractive error. 06 patients (27.3%) had mild refractive error, 09 patients (40.9%) had moderate and 07 patients (31.8%) had severe refractive error. 13 patients (59.1%) showed astigmatism, 08 patients (36.4%) showed hypermetropia and only 01 patient (4.5%) showed myopia. Nystagmus was present in all 22 patients. Conclusion: This study suggested that astigmatism was the most common refractive error in OCA patients followed by hypermetropia. If refractive errors are not managed timely it will affect their daily life activities and increase the burden on the community.

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Section: Discussionmentioning

confidence: 99%

Patterns of refractive errors in albino patients in pediatric age group.

Qayyum

Ajmal²,

Chaudhary

et al. 2023

TPMJ

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“…This hypothesis reinforces the suggestion that using cycloplegic eye drops could be beneficial to achieve the most optimal visual development possible in patients with OCA. 21 Corneal topography could be performed to investigate the presence of keratoconus in patients with OCA.…”

Section: Discussionmentioning

confidence: 99%

Ophthalmologic Phenotype–Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

Seguy,

Korobelnik,

Delyfer

et al. 2023

Invest. Ophthalmol. Vis. Sci.

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Purpose Albinism is a group of genetic disorders that includes several conditions related to a defect in melanin production. There is a broad phenotypic and genotypic variability between the different forms. The aim of this study was to assess the ophthalmologic characteristics according to patients’ genotypes in a cohort followed in the Reference Center for oculocutaneous albinism (OCA) of Bordeaux University Hospital, France. Methods A retrospective observational study was conducted in a cohort of patients with OCA seen in consultation in the ophthalmology department between 2017 and 2021 in whom a genetic analysis was performed. Results In total, 127 patients with OCA were included in this study and matched with the results of the genetic analysis. In the population aged over 6 years, there was no statistical difference in binocular visual acuity between the OCA1, OCA2, and OCA4 forms ( P = 0.27). There was difference in ametropia between the three forms ( P = 0.003). A two-by-two comparison using the Bonferroni correction showed a significant difference in ametropia between the OCA2 and OCA4 forms ( P = 0.007) and between the OCA1 and OCA2 forms ( P = 0.0075). Regardless of the form, most patients (75.4%) had grade 4 foveal hypoplasia. There was no association between the grade of foveal hypoplasia and the gene involved ( P = 0.87). Conclusions We described a genotype–phenotype correlation for the three most represented forms of albinism in our cohort. This study allowed assessing the degree of visual deficiency in young children with OCA.

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“…While these features are generally observed in all patients with oculocutaneous albinism, individual variations have been previously reported in the literature. [ 1 2 3 4 5 6 ] However, for siblings who are expected to have a similar genetic profile, it is expected that the phenotypic variation would be minimal.…”

Section: Discussionmentioning

confidence: 99%

“…The refractive profile of children with oculocutaneous albinism versus an age-matched non-Albino group was reported by Sayad and colleagues. [ 5 ] In their study on 82 albino children and 82 non-albino children, they reported that astigmatism (100%) and hypermetropia (62%), respectively, were the most common refractive errors in the former group. All albino eyes (100%) were high astigmats (≥1.25 D).…”

Section: Discussionmentioning

confidence: 99%

Phenotypic variations in ocular features among siblings with oculocutaneous albinism

Bhate

Lalwani²,

Chakrabarti³

2022

Indian J Ophthalmol

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Purpose: To assess the clinical profiles, presenting ocular features, and variations in the phenotypic features in siblings with oculocutaneous albinism (OCA). Methods: Electronic medical records of consecutive siblings diagnosed with albinism from January 2016 to December 2020 were reviewed to identify the affected siblings. The variations in their phenotypic characteristics were studied. Results: Significant variations were observed in the clinical features between the siblings ( n = 42). A difference of >2 lines in visual acuity was observed in 50% ( n = 21) of the sibling pairs. Compound hyperopic astigmatism was the commonest refractive error. The refractive status was different in 80.95% ( n = 34) pairs. Although individually strabismus and abnormal head posture were observed in one-third and one-fourth of individual children, respectively, both siblings with similar strabismus were seen in only 16.67% ( n = 7) and with a similar abnormal head posture in 13.33% ( n = 5). Nystagmus was the most consistent finding across these siblings with a similar nature of horizontal jerk or pendular in 65% of sibling pairs. Conclusion: This study observed significant variations in phenotypic presentations among siblings with OCA. Such differences in clinical manifestations and severity would be helpful in appropriate counseling of these families as the need for rehabilitation services is likely to vary across siblings.

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Analysis of the Refractive Profile of Children with Oculocutaneous Albinism versus an Age-Matched Non-Albino Group

Cited by 5 publications

References 22 publications

Patterns of refractive errors in albino patients in pediatric age group.

Patterns of refractive errors in albino patients in pediatric age group.

Ophthalmologic Phenotype–Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

Phenotypic variations in ocular features among siblings with oculocutaneous albinism

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