Corneal dystrophies

Труфанов, С В; Tekeeva, L. Yu.; Salovarova, E P; Bag, R. Z.; Суханова, Е. В.

doi:10.17116/oftalma2018134051118

Cited by 6 publications

(2 citation statements)

References 21 publications

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“…The R124L mutation is also a common mutation type. In other atypical cases, R125H, R555Q, R555W and a few mutations at the R124C, G623D, H572R and H626P sites have also been reported [19][20][21][22][23][24][25][26][27] . Our study also found that the CD of this pedigree had high incidence, early onset age, severe condition and high recurrence rate.…”

Section: Discussionmentioning

confidence: 99%

Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree

Fu¹,

Duan²,

Zhang³

et al. 2022

Int J Ophthalmol

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AIM: To investigate the histological characteristics and ultrastructure of recurrent Chinese R124L mutated corneal dystrophy after keratoplasty. METHODS: The subjects were enrolled from a Chinese family of corneal dystrophy with R124L heterozygous gene mutation and with a history of consanguineous marriage. Normal corneal samples were used as controls. RESULTS: In this family, 2 patients (3 eyes) underwent penetrating keratoplasty (PKP) and 2 patients (4 eyes) underwent lamellar keratoplasty (LKP). They had recurrence at 33.5±3.0 (range 30-36)mo after keratoplasty. Among them, 1 patient (1 eye) underwent PKP again and 1 patient (2 eyes) underwent LKP again. In the R124L mutated recurrent corneal dystrophy, the corneal turbidity was mainly distributed from the upper corneal cortex to the anterior stroma; the corneal epithelium surface was rougher and more uneven; and, the corneal erosions were larger. Hematoxylin-eosin staining showed that the thickness of the corneal epithelium was uneven; the arrangement of the epithelial cells was disordered; and, some corneal epithelial cells were swollen. The results of Congo red staining, Masson’s trichrome staining and Periodic acid-Schiff staining were positive, while that of Alcian blue staining was negative. Under a transmission electron microscope, deposition of high electron density substances between epithelial and basal cells, and, apoptosis of basal cells were observed. Many high electron density depositions were observed in the sub-epithelial and anterior corneal matrix. CONCLUSION: In the Chinese family of recurrent corneal dystrophy with R124L gene mutation, the corneal epithelia of the recurrent cases are rougher, and the corneal depositions are extracellular amyloid fibrin.

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Section: Discussionmentioning

confidence: 99%

Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree

Fu¹,

Duan²,

Zhang³

et al. 2022

Int J Ophthalmol

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“…Corneal dystrophy (CD) is a general term for a series of primary, binocular, and blinding corneal diseases related to family inheritance ( 1 ). CD caused by an R124L mutation is an anterior CD with autosomal dominant inheritance ( 2 ).…”

Section: Introductionmentioning

confidence: 99%

The observation of anterior segment in children with an R124L mutation corneal dystrophy by anterior segment optical coherence tomography and in vivo confocal microscopy

Zhao²,

Zhang³

et al. 2022

Front. Med.

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PurposeTo evaluate the anterior segment in children with an R124L mutation corneal dystrophy (CD) using anterior segment optical coherence tomography (AS-OCT) and in vivo confocal microscopy (IVCM).MethodsWe investigated a family with prevalent CD and an R124L mutation; 59 individuals (14 patients; 6 male and 8 female, aged 2–69 years, 6 children, 2:4 male: female ratio) from four generations were included. We observed corneal lesions through ophthalmologic examinations, AS-OCT, and IVCM. The mean follow-up was 4.60 ± 3.91 years.ResultsThe mean age for childhood CD onset was 0.90 ± 0.61 years. An Avelino DNA test revealed a heterozygous R124L mutation. Clinical manifestations included recurrent photophobia, tearing, and a foreign body sensation. Recurrence frequency decreased with age. Slit lamp microscopy revealed a rough corneal epithelium. The anterior matrix under the corneal epithelium and the anterior elastic layer were scattered with gray and white opacity. From onset to follow-up, the children’s visual acuity decreased from 0.34 ± 0.12 to 0.55 ± 0.17 LogMAR units. AS-OCT showed uneven corneal epithelial thickness. The Bowman’s layer was replaced by abnormal substances in the anterior segment. Corneal deposits became increasingly thicker; the average thickness at the last follow-up was 102.78 ± 10.13 μm. IVCM revealed uneven and reflective signals in the corneal upper cortex and subepithelium, with unclear boundaries and a loss of normal cell morphology.ConclusionWe report an early age of onset in a family with prevalent CD due to R124L mutations. AS-OCT is a convenient, quick, and non-contact tool for screening and monitoring the pathological process of CD.

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Clinical and morphological characteristics of corneal epithelial dystrophy (clinical observations)

Sé¹,

Voronin²,

Суханова³

et al. 2022

Vestn. oftal'mol.

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Corneal dystrophies

Cited by 6 publications

References 21 publications

Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree

Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree

The observation of anterior segment in children with an R124L mutation corneal dystrophy by anterior segment optical coherence tomography and in vivo confocal microscopy

Clinical and morphological characteristics of corneal epithelial dystrophy (clinical observations)

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