Brittle cornea syndrome

What it is

From: Orphanet

A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Blue sclerae · Very frequent (99-80%)

An abnormal bluish coloration of the sclera.

Joint hypermobility · Very frequent (99-80%)

The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.

Abnormal foot morphology · Frequent (79-30%)

An abnormality of the skeleton of foot.

Astigmatism · Frequent (79-30%)

A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.

Conductive hearing impairment · Frequent (79-30%)

An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.

Corneal perforation · Frequent (79-30%)

A rupture of the cornea through which a portion of the iris protrudes.

Decreased corneal thickness · Frequent (79-30%)

A decreased anteroposterior thickness of the cornea.

Hearing impairment · Frequent (79-30%)

A decreased magnitude of the sensory perception of sound.

High myopia · Frequent (79-30%)

A severe form of myopia with greater than -6.00 diopters.

Hyperextensible skin · Frequent (79-30%)

A condition in which the skin can be stretched beyond normal, and then returns to its initial position.

Keratoconus · Frequent (79-30%)

A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.

Keratoglobus · Frequent (79-30%)

Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.

Sensorineural hearing impairment · Frequent (79-30%)

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Soft skin · Frequent (79-30%)

Subjective impression of increased softness upon palpation of the skin.

Other findings in the same source

From: Orphanet

Additional reported features include Visual loss (Frequent (79-30%)); Abnormality of epiphysis morphology (Occasional (29-5%)); Abnormality of the dentition (Occasional (29-5%)); Arachnodactyly (Occasional (29-5%)); Bruising susceptibility (Occasional (29-5%)); Camptodactyly (Occasional (29-5%)); Cervical insufficiency (Occasional (29-5%)); Corneal erosion (Occasional (29-5%)); Depressed nasal bridge (Occasional (29-5%)); Dermal translucency (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal recessive

Frequency and the population described

From: Orphanet

Reported case(s): 65.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing Brittle cornea syndrome is Rheumatology, with a rheumatologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Are the findings inflammatory, structural or due to another mechanism?
• Is there evidence that other organs need assessment?
• How will function and any treatment-related risks be monitored?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Brittle cornea syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.