PURPOSE To indicate important changes in our understanding of the corneal dystrophies. METHODS A review of the literature of the last quarter of a century. RESULTS The earliest clinical classifications of the corneal dystrophies were based on the application of clinical, biological, histochemical, and ultrastructural methods. Since then, the first great impetus to our understanding has come from the application of techniques to map disorders to specific chromosome loci, using polymorphic markers. More recently, using candidate gene and related approaches, it has been possible to identify genes causing several of the corneal dystrophies and the mutations responsible for their phenotypic variation. A notable success has been to show that several important "stromal" dystrophies result from mutations in the gene beta ig-h3, which encodes for the protein keratoepithelin (beta ig-h3). CONCLUSIONS For the corneal dystrophies, as with other inherited disorders, there is room for two sorts of classification system, one based mainly on clinical presentation and the other on an up-to-date understanding of the genetic mechanisms. They are not mutually exclusive. Some developmental corneal disorders are also discussed.

Genetics of the corneal dystrophies: what we have learned in the past twenty-five years.

Keratoconus is a bilateral, non-inflammatory corneal ectasia characterized by progressive conical thinning and protrusion of the cornea Its etiology has long been believed to be multifactorial, with environmental, behavioral, and genetic factors all contributing to the disease process This review focuses specifically on examining the evidence that supports a genetic basis for keratoconus

The Genetics of Keratoconus

Genetic Linkage Analysis of Autosomal Dominant Congenital Cataracts

Keratoconus: Current understanding of diagnosis and management

Genetic linkage analysis of autosomal dominant congenital cataracts with lens-specific DNA probes and polymorphic phenotypic markers.

subsequent loss of the eye. The young woman was badly impressed and in a short time developed a sort of fixed idea, that the child, which she was carrying, would have something wrong with its eyes. I heard afterwards from several persons, and from friends of the lady, confirmation of this part of her history: being pregnant, she often expressed apprehensions for the eyes of her future child. In due time she gave birth to a baby who \" had no eyes.\" Under the eyelids, which could be opened well, only \" flesh \" was seen. There were no other deformities. The child died from an acute infection. The same apprehension haunted her during the whole of her second pregnancy, which ended in the birth of the present child. She has had no other children.

https://bjo.bmj.com/content/bjophthalmol/15/1/23.full.pdf

A family affected with keratoconus and anterior polar cataract.

Handle everyday research tasks with reliable, citation-backed results

Your personal Research Agent to handle research tasks with citation-backed results

Popular Tasks used by Researchers

How can I help with your research?

Meet SciSpace

Get more enhanced response by uploading the PDFs you want me to reference.

No relevant PDFs in your library

SciSpace is the AI research assistant for academics. Run systematic literature reviews on 280M+ papers, and write papers with cited sources. Trusted by 1M+ students, PhDs & researchers.

SciSpace | AI for Research

Analyze PDFs

Code & Manuscripts

Funding & Grants

Literature & Patents

Medical & Clinical Data

Systematic Review

Visualize & Present

Web & Data

Build a Google Scholar-like website for your research.

Build a website

Create charts and images for your research

Create a Chart

Write a paper for submission to a journal

Draft a manuscript

Patent Search

Design eye-catching scientific posters in minutes.

Scientific Poster Generation

Systematic Literature Review

One task is running at the moment. Your messages will be shown right after.

Drag and drop or click here to browse

Loved by <highlight>1 million+</highlight> researchers

Extract a list of specific topics and their sources from unstructured text

Topics

Compare and analyze relevant papers that matches with your search

Papers

Get insights from PDFs and bookmarked papers from your library

My library

Recent searches

Try searching for:

Catch AI-generated content in scholarly and non-scholarly content

{ai} Detector

Ai Writer

Get PDF Summaries, highlighted text explanations 

Chat with PDF

Effortlessly create in-text citations and bibliographies in APA and 2,500 other formats

Citation generator

Get explanations, summaries, and answers on academic papers

Ease up your research workflow with {scispace}'s cohort of exciting AI tools

Elevate your academic writing skills and convey your ideas the way you want

Paraphraser

Explore our range of reading and writing tools

Your file is being prepared and should be ready in a few minutes. If it's a large file, it might take a bit longer. You can close this window, and we'll email you the file when it's done.

You have reached a maximum limit of <strong>{limit}</strong> columns in the table. Remove at least <strong>1</strong> column to add or create another one.

P. Sander

Author Tools

Chat about Author

Papers

A family affected with keratoconus and anterior polar cataract.