Genetic analysis of a Chinese family with cataract-microcornea syndrome / 中华实验眼科杂志

Objective:To analyze the clinical and molecular genetic characteristics of a Chinese family with congenital cataract-microcornea syndrome.Methods:The method of pedigree investigation was adopted.A Chinese Han family with congenital cataract-microcornea syndrome was recruited in Xiamen Eye Center of Xiamen University.All the family members received detailed ophthalmologic examination including the best corrected visual acuity, intraocular pressure measurement by handheld applanation tonometry, slit lamp biomicroscopy, color fundus photography, B-scan ultrasonography, corneal diameter, anterior segment optical coherence tomography, ultrasound biomicroscopy, corneal endoscopy, and corneal topography.Genomic DNA was extracted from peripheral venous blood from some patients and unaffected family members.Targeted high-throughput DNA sequencing was performed on the proband.The sequencing chip contained 188 known pathogenic genes related to lens abnormalities.Suspected pathogenic genes were verified by Sanger sequencing in phenotypically normal family members to identify the co-segregation and the disease-causing gene.Bioinformatics analysis was performed to analyze the pathogenicity of variants by REVEL.Conserved protein domains were analyzed by InterPro.Physicochemical property of the mutant protein was analyzed by ProtParam.The deleteriousness of the protein was predicted by PolyPhen-2.Homology of the variants in pathogenic gene was analyzed by NCBI website to compare the conservation among various species.This study followed the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.XMYKZX-LW-2009-003).Written informed consent was obtained from each subject prior to entering the study cohort.Results:There were 39 members of 4 generations in this family including 11 patients with an autosomal dominant inheritance pattern.Clinical features of the patients included congenital cataract and microcornea.No obvious abnormality was found in ophthalmic and general examination.A heterozygous mutation c. 61C>T in the CRYAA gene was found, resulting in the mutation of the amino acid from arginine to tryptophan (p.Arg21Trp) at position 21, consistent with co-segregation.The number of cationic cluster in the mutant protein decreased, and the hydrophilicity and stability were reduced.The variant was predicted to be deleterious and was highly conserved in multiple species. Conclusions:A novel heterozygous mutation c.61C>T p. Arg21Trp in CRYAA gene is considered as the causal gene of this family.It is the first time this variant has been reported in China.

Experience of applying cosmetic Etafilcon A contact lens in cases with microcornea / Experiência de aplicação de lentes de contato cosméticas Etafilcon A em casos de microcórnea

ABSTRACT Purpose: Microcornea is a rare condition that frequently resulets in serious cosmetic concerns due to the resultant asymmetrical appearance of the eye, and its cosmetic rehabilitation is possible with the use of colored contact lenses. This paper aims to present our experiences with the use of cosmetic Etafilcon A contact lenses for microcornea. Methods: Eight patients with unilateral microcornea without any systemic involvement were included in this study, and they underwent routine ophthalmological examination, corneal topography, and optical biometry. We applied the cosmetic Etafilcon A contact lens (1-DAY ACUVUE® DEFINE® with Lacreon®) of the same edge color to the patients. The levels of satisfaction in terms of cosmesis and comfort were evaluated with the use of visual analog scales (VAS). Results: In the patients, the corneal diameter asymmetry was acceptably adjusted, and each of the patients reported extreme satisfaction. The mean VAS score was 8.9 ± 1.0 (range: 7-10) for the cosmetic satisfaction rate and 8.4 ± 1.0 (range: 7-10) for the comfort rate. The patients obtained the best-corrected visual acuity without or with additional eye-glasses. None of the patients complained about vision issues under photopic and scotopic conditions. Conclusion: 1-DAY ACUVUE® DEFINE® with Lacreon® lens has promising satisfactory cosmetic outcomes along with visual enhancement in cases of microcornea. This is the first study to report the use of this lens for the cosmetic rehabilitation of patients with microcornea.

RESUMO Objetivo: A microcórnea é uma afecção rara, que frequentemente causa graves queixas estéticas devido a uma aparência assimétrica, mas passível de reabilitação estética através de lentes de contato coloridas. O objetivo deste estudo é apresentar nossas experiências no uso de lentes de contato cosméticas Etafilcon A em casos de microcórnea. Métodos: Oito pacientes com microcórnea unilateral, sem acometimento sistêmico, foram incluídos e submetidos a exame oftalmológico de rotina, topografia corneana e biometria óptica. Aplicamos nos pacientes uma lente de contato cosmética Etafilcon A (1-Day Acuvue® Define® com Lacreon®) da mesma cor da borda da córnea dos pacientes. Os níveis de satisfação em termos de estética e conforto foram avaliados por meio de escalas visuais analógicas (EVA). Resultados: A assimetria do diâmetro da córnea foi corrigida em um grau aceitável e todos os pacientes ficaram muito satisfeitos. A pontuação média da EVA foi de 8,9 ± 1,0 (variação: 7-10) para o grau de satisfação estética e 8,4 ± 1,0 (intervalo: 7-10) para o grau de conforto. Os pacientes obtiveram a melhor acuidade visual corrigida com ou sem óculos adicionais. Não houve queixas visuais em condições fotópicas ou escotópicas. Conclusão: A lente 1-Day Acuvue® Define® com Lacreon® é promissora em termos de resultados estéticos satisfatórios, bem como de melhoria da visão em casos de microcórnea. Este é o primeiro estudo a relatar o uso dessa lente na reabilitação cosmética de pacientes com microcórnea.

Pars-plana vitrectomy with phacofragmentation for hyperdense cataracts in eyes with severe microcornea and chorio-retinal coloboma: A novel approach

Purpose: To report the outcomes of pars-plana approach for the management of brunescent cataract in eyes with severe microcornea and associated chorio-retinal coloboma. Methods: This was a retrospective, single center, interventional case series performed in a tertiary eyecare center in central Medical records of consecutive cases of microcornea with coloboma who underwent pars-plana vitrectomy with phacofragmentation (PF) between January 2015 and December 2017 were reviewed. Results: The study group comprised of 30 eyes of 30 patients, of which 18 (60%) were males and 12 (40%) were females. The mean age of the patients was 41.9 years (range of 17� years). The mean corneal diameter was 6.7 mm with a range of 4�mm and all the eyes had dense cataract with nuclear sclerosis of grade 4 or more. The mean preoperative visual acuity was 1.97 (+/-0.067) Log MAR and the mean postoperative vision at 1 month was 1.6 (+/-0.39) Log MAR. Postoperatively, 21 patients (70%) gained ambulatory vision. The visual gain in all the patients was maintained over a mean follow-up period of 15.5 months. Conclusion: Pars-plana vitrectomy with PF can be considered in eyes with severe microcornea and brunescent cataracts, where cataract surgery through the limbal (anterior) approach is not only difficult but at times impossible due to anatomical restraints.

Unilateral acute hydrops in a child with bilateral microcornea and iridofundal coloboma

A 15-year-old female child with history of bilateral poor vision since childhood presented with sudden onset pain, photophobia, and diminution of vision OD for 10 days. Visual acuity was hand motion OD and 1/60 OS. Slit lamp examination revealed microcornea OU with multiple intrastromal fluid clefts OD and an irregular cornea and iridofundal coloboma OS. A clinical diagnosis of acute corneal hydrops OD was made, and the child was subjected to intraoperative optical coherence tomography guided intrastromal fluid drainage with air tamponade. The corneal edema resolved completely within 2 weeks resuming visual acuity to 3/60 allowing laser delimitation of fundal coloboma OD.

An Analytical Study on Visual Handicap in Patients Attending Ophthalmology OPD: A Hospital Based Study in Mathura

Background: India requires 40,000 optometrists, it has only 8,000. Besides this, we needs 2.5 lakh donated eyes every year, the country’s 109 eye banks manage to collect a maximum of just 25,000 eyes, out of which 30% can’t be used. It is reported that India has 12,000 ophthalmologists who have no time to conduct blindness-preventing surgeries as they are flooded with general eye check-up of patients. Methods: This study conducted in the Department of Ophthalmology in the K M Medical College & Hospital, Mathura. The duration of study was over a period of one year Result: In this study we revealed that the visually disabled retinitis pigmentosa accounted for (16%), congenital anomalies which included microcornea, microphthalmos, anophthalmos, and coloboma of eye (15.3%), refractive errors (11.6%),age related macular degeneration(10%), corneal opacity(9.6%), uveitis(8.6%), glaucoma(6.6%), optic atrophy(6%), lens(congenital cataract and complicated cataract) (5.3%), diabetic retinopathy(5%). Conclusion: This study was revealed that there is no proper treatment available for the most common causes of blindness, only preventive measures can be undertaken.

Relative anterior microphthalmos in oculodentodigital dysplasia

Here, we report a patient with oculodentodigital dysplasia (ODDD) caused by the c. 413G>A, p.Gly138Asp mutation in the gap junction protein alpha-1 gene. The patient suffered from characteristic dysmorphic features of ODDD. Ophthalmological investigation disclosed microcornea and a shallow anterior chamber, as expected. Surprisingly, the patient had a normal axial length and moderate myopia on both eyes. To the best of our knowledge, this is the first report on ODDD associated with relative anterior microphthalmos and myopia.

Scleral tunnel phacoemulsification: Approach for eyes with severe microcornea.

Cataract surgery in eyes with microcornea is associated with frequent complications such as corneal edema, posterior capsular rent, and risk of unplanned aphakia. We describe an improved surgical technique for the creation of surgical incisions during phacoemulsification in eyes with cataract associated with microcornea. A retrospective analysis of eight patients (8 eyes) operated at our center was undertaken. The mean age of the patients was 29.5 ± 10.9 years. All eyes were operated using the scleral pocket incision for phacoemulsification. This scleral pocket incision was tangential to the limbus and created approximately 2.5 mm behind limbus through which phacoemulsification probe was inserted. Because of the posterior placement of incision, the anterior chamber crowding was minimized. There was no incidence of port‑site peripheral corneal edema. Fifty percent eyes developed transient central corneal edema, the intraocular lens in bag was implanted in 5/8 eyes, and none developed Descemet’s membrane detachment. Mean best‑corrected visual acuity improved from 1.85 ± 0.38 logarithm of minimum angle of resolution (LogMAR) to 1.26 ± 0.70 LogMAR postoperatively (P = 0.01; paired t‑test). Posterior incision placement during phacoemulsification in microcornea helps achieve favorable postoperative outcomes in contrast to outcomes using clear corneal approach described in literature.

Oculodentodigital dysplasia.

Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha‑1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo), teeth (dento), and fingers and/or toes (digital). The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21‑year‑old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood.

Radios de curvatura corneal encontrados en diferentes condiciones corneales de carácter hereditario, genético o iatrogénico / Radios of corneal curvature found in different corneal conditionsof hereditary, genetic or iatrogenic character

En este artículo de revisión se pretende determinar los radios de curvatura que se pueden presentar en patologías y en alteraciones corneales de carácter hereditario, genético o iatrogénico, tanto en córneas planas y en córneas curvas como la esclerocórnea, microcórnea, megalocórnea, queratocono, queratoglobo, miopía de curvatura y otros. Se hizo una revisión bibliográfica de artículos con la información necesaria para identificar las alteraciones corneales más frecuentes que se pueden presentar en pacientes con córneas planas y córneas curvas diferentes a las queratometria, consideradas medidas promedio comprendidas entre 42,00 y 45,00 D. Se concluyó que los pacientes con córneas planas presentaban una refracción corneal entre 20,00 D y 41,50 D, siendo 32,25 D el promedio encontrado en la revisión; en las córneas curvas se encontraron refracciones corneales entre 51,00 D y 59,75 D, con un promedio de 55,50 D.

In this review there was tried to determine the curvature radius present in some pathologies and corneal diseases of hereditary, genetic or iatrogenic character, in flat corneas and steep corneas as esclerocornea, microcornea, megalocornea, Keratoconus, keratoglobus, curvature myopia and others. An article review was made to identify frequent corneal alterations that can be found in patients with flat and steeper curves different from corneal measures average between 42.00 and 45.00 D. It was concluded that in the patients with on flat corneas the corneal refraction was from 20.00 D to 41.50 D being the average value in the review 32.25 D; in steeper corneas, corneal refractions were from.

A Case of Retinal Detachment in Colobomatous Macrophthalmos With Microcornea Syndrome

We report a rare case of retinal detachment in colobomatous macrophthalmos with microcornea syndrome. A 25-year-old female who had suffered from poor vision in her left eye since early childhood and high myopia in her right eye (-11 D) visited our clinic because of a sudden deterioration of vision. Examination of the anterior segment showed microcornea with coloboma of the inferior pupil margin in the left iris. Fundus examination of the left eye revealed an inferior choroidal coloboma extending from the optic disc and macula. The patient also had total bullous retinal detachment. Pars plana vitrectomy with silicone oil tamponade was performed, and the retina was reattached. In the very rare condition of colobomatous macropthalmos with microcornea, retinal detachment may develop. Pars plana vitrectomy with additional silicone oil tamponade may be performed to treat this condition.

Posterior Chamber Intraocular Lens Implantation in Pediatric Cataract with Microcornea and/or Microphthalmos

PURPOSE: To report the results of secondary posterior chamber intraocular lens (PC-IOL) implantation in pediatric cataract eyes with microcornea and/or microphthalmos. METHODS: Retrospective studies were conducted by reviewing the charts of 26 eyes of 15 patients with secondary PC-IOL implantations for microcornea and/or microphthalmos associated with cataract in children between 1999 and 2002. The corneal diameter was 9.5 mm or less at the time of secondary PC-IOL implantation. Preoperative examinations were conducted for bilaterality, corneal diameter, eye abnormalities and systemic abnormalities. Postoperative results were evaluated in terms of visual developments, refractive changes, axial length measurements and the occurrence of complications. The follow-up period was at least one year after secondary PC-IOL implantation. RESULTS: Age at the first diagnosis for cataract with microcornea and/or microphthalmos was 2.7 months on average. Among 15 patients, 8 (53.3%) had a family history. All patients received an initial irrigation and aspiration, posterior capsulectomy, and anterior vitrectomy at 0.8 years (0.1-3.3 years) of age and a secondary PC-IOL implantation surgery at 6.7 years (1.6-17.2 years) of age on average. The postoperative follow-up period was 2.1 years (1.1-4.3 years) on average. The average power of the implanted PC-IOL was +21.2D. Postoperative complications were secondary glaucoma in two eyes, secondary pupillary membrane formation in two eyes. Best corrected visual acuities in 20 eyes in children capable of the vision test at the last follow-up were 20/60 or better in 11 eyes, 20/80 to 20/150 in eight eyes, and 20/200 or worse in one eye. CONCLUSIONS: The secondary PC-IOL implantation in pediatric cataract with microcornea and/or microphthalmos is recommended as a means of improving vision, but must be conducted carefully to avoid possible complications.