Refractive development in individuals with ocular and oculocutaneous albinism

Verkicharla, Pavan K.; Thakur, Swapnil; Kammari, Priyanka; Dhakal, Rohit; Das, Anthony Vipin

doi:10.1007/s10792-021-02165-6

Cited by 7 publications

(2 citation statements)

References 32 publications

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“…The myopic patients in our study all had foveal hypoplasia grade 3 or 4 except for two who did not have OCT scans available. A nearly equal distribution of myopia and hyperopia in patients with albinism was found in a large Indian study even in children [29]. A small study from the USA found an overrepresentation of hyperopia in patients with albinism [6].…”

Section: Discussionmentioning

confidence: 95%

Does Foveal Hypoplasia Affect Emmetropization in Patients with Albinism?

Kessel,

Kjølholm,

Jordana

2023

Children

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(1) Background: The aim of the study was to describe refractive development from early childhood to adulthood in Danish patients with albinism and to evaluate the effect of foveal developmental stage on refractive development; (2) Methods: Patients with a clinical diagnosis of ocular or oculocutaneous albinism were invited for a refractive evaluation and comprehensive phenotyping including macular optical coherence tomography (OCT) scans. Foveal hypoplasia was graded based on OCT from 0 (normal) to 4 (absence of any signs of foveal specialization). Medical files were reviewed for historical refractive values in individual patients; (3) Results: Hyperopia (spherical equivalent refraction (SEQ) of ≥+1 Diopter (D)) was common in both children (81.3%) and adults (67.1%). The lower prevalence of hyperopia in adults was predominantly explained by increasing astigmatism with age. Emmetropization (>2D change from before 3 years to adolescence) was seen in 22.2%. There was no influence on foveal hypoplasia grade on the degree of refractive errors throughout life; (4) Conclusions: We found that emmetropization was uncommon in Danish patients with albinism and that the degree of foveal developmental stage did not influence emmetropization or the distribution of refractive errors. High degrees of hyperopia and astigmatism were common. These results indicate that fear of impeding emmetropization should not refrain the clinician from providing adequate correction for refractive errors in young children with albinism.

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Section: Discussionmentioning

confidence: 95%

Does Foveal Hypoplasia Affect Emmetropization in Patients with Albinism?

Kessel,

Kjølholm,

Jordana

2023

Children

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“…It has been found from some studies that, unlike the TYR gene-related albinism, GPR143 gene-related albinism is more likely to be complicated with a short ocular axis [ 44 ]. In 2022, Pavan Verkicharla analyzed the refractive status of 618 albinos and found that high myopia being much more prevalent than hyperopia [ 45 ], suggesting that high myopia is also a common sign in albinism, and that if patients are complicated with high myopia, then, as in this case, albinism-like fundus changes are often less typical, so that OA1 is often misdiagnosed as idiopathic congenital nystagmus [ 46 ].…”

Section: Discussionmentioning

confidence: 99%

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families

Zi,

Li,

Cheng

et al. 2023

BMC Med Genomics

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Purpose To report novel pathogenic variants of X-linked genes in five Chinese families with early-onset high myopia (eoHM) by using whole-exome sequencing and analyzing the phenotypic features. Methods 5 probands with X-linked recessive related eoHM were collected in Ningxia Eye Hospital from January 2021 to June 2022. The probands and their family members received comprehensive ophthalmic examinations,and DNA was abstracted from patients and family members. Whole-exome sequencing was performed on probands to screen the causative variants, and all suspected pathogenic variants were determined by Sanger sequencing and co-segregation analysis was performed on available family members. The pathogenicity of novel variants was predicted using silico analysis and evaluated according to ACMG guidelines. RT-qPCR was used to detect differences in the relative mRNAs expression of candidate gene in mRNAs available with the proband and family members in the pedigree 2. The relationship between genetic variants and clinical features was analyzed. Results All probands were male, and all pedigrees conformed to an X-linked recessive inheritance pattern. They were diagnosed with high myopia at their first visits between 4 and 7 years old. Spherical equivalent ranged between − 6.00D and − 11.00D.The five novel hemizygous variants were found in the probands, containing frameshift deletion variant c.797_801del (p.Val266Alafs*75) of OPN1LW gene in the pedigree 1, nonsense variant c.513G > A (p.Trp171Ter)of RP2 gene in the pedigree 2, missense variant c.98G > T (p.Cys33Phe) of GPR143 gene in the pedigree 3, frameshift deletion variant c.1876_1877del (p.Met626Valfs*22) of FRMD7 gene in the pedigree 4 and inframe deletion variant c.670_ 675del (p.Glu192_ Glu193del) of HMGB3 gene in the pedigree 5. All variants were classified as pathogenic or likely pathogenic by the interpretation principles of HGMD sequence variants and ACMG guidelines. In family 2, RT-qPCR showed that the mRNA expression of RP2 gene was lower in the proband than in other normal family members, indicating that such variant caused an effect on gene function at the mRNA expression level. Further clinical examination showed that pedigrees 1, 2, 3, and 4 were diagnosed as X-linked recessive hereditary eye disease with early-onset high myopia, including quiescent cone dysfunction, retinitis pigmentosa, ocular albinism, and idiopathic congenital nystagmus respectively. The pedigree 5 had eoHM in the right eye and ptosis in both eyes. Conclusion In this paper,we are the first to report five novel hemizygous variants in OPN1LW, RP2, GPR143, FRMD7, HMGB3 genes are associated with eoHM. Our study extends the genotypic spectrums for eoHM and better assists ophthalmologists in assessing, diagnosing, and conducting genetic screening for eoHM.

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Myopia dominance in preterm infants without and with retinopathy of prematurity: Indian Twin Cities ROP study (ITCROPS) report number 15

Thakur,

Kumari,

Sanghavi

et al. 2024

Acta Ophthalmologica

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PurposeTo investigate the refractive error profile and progression in infants with different stages of ROP, without ROP, and those who received laser treatment for ROP.MethodsThis retrospective study included the data from 838 infants (baseline mean age 3.7 ± 5.4 months) who had premature birth. Among these, 433 infants had one of the stages of ROP and 405 had no ROP. Infants with ROP were sub‐divided into stage 1 (n = 76), stage 2 (n = 142), and stage 3 (n = 136) and aggressive posterior ROP, (APROP, n = 79). They were further categorized into those who received treatment (n = 213) and with no treatment for ROP (n = 220). Data from a subset of 117 infants was used to assess the 1‐year change in the refractive error. Myopia was defined as spherical equivalent refraction (SER) <−0.50 diopters (D). Eyes with retinal detachment were excluded.ResultsHigher percentage of myopia was found in infants with ROP (39.7%) than no‐ROP (19.8%), and it increased with severity of ROP: stage 1: 19.7%, stage 2: 33.8%, stage 3: 45.6%, and 59.5% in APROP. Percentage of myopia doubled in those who underwent treatment for ROP (54.5%) compared to no‐treatment group (25.5%). Mean (± SEM) change in SER after 1 year was significantly greater in infants with APROP −4.55 ± 1.38 D and stage 3 ROP −2.28 ± 0.57 D compared to other stages and no‐ROP.ConclusionMyopia was found to be more prevalent in preterm infants in general, and more in the presence of ROP. Preterm infants without or with any form of ROP, particularly those with severe form of ROP and those who received treatment require meticulous periodic refractive error assessment.

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Refractive development in individuals with ocular and oculocutaneous albinism

Cited by 7 publications

References 32 publications

Does Foveal Hypoplasia Affect Emmetropization in Patients with Albinism?

Does Foveal Hypoplasia Affect Emmetropization in Patients with Albinism?

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families

Myopia dominance in preterm infants without and with retinopathy of prematurity: Indian Twin Cities ROP study (ITCROPS) report number 15

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