Microphthalmia, Lentz type

Microphthalmia, Lentz type
[[File:|250px|]]
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	N/A
Complications	N/A
Onset	N/A
Duration	N/A
Types	N/A
Causes	N/A
Risks	N/A
Diagnosis	N/A
Differential diagnosis	N/A
Prevention	N/A
Treatment	N/A
Medication	N/A
Prognosis	N/A
Frequency	N/A
Deaths	N/A

Microphthalmia, Lentz type is a rare genetic disorder characterized by microphthalmia, which is a developmental disorder of the eye resulting in abnormally small eyes. This condition is part of a spectrum of disorders that affect the development of the eyes and other parts of the body.

Genetics

Microphthalmia, Lentz type is inherited in an X-linked recessive pattern. This means that the gene responsible for the condition is located on the X chromosome, and the disorder primarily affects males. Females can be carriers of the condition and may exhibit mild symptoms due to X-inactivation.

The specific gene associated with Microphthalmia, Lentz type has been identified as the BCOR gene. Mutations in this gene disrupt normal eye development, leading to the characteristic features of the disorder.

Clinical Features

Individuals with Microphthalmia, Lentz type typically present with:

• Microphthalmia
• Coloboma
• Cataracts
• Nystagmus
• Strabismus

In addition to ocular abnormalities, affected individuals may have:

• Craniofacial dysmorphism
• Hearing loss
• Skeletal anomalies
• Developmental delay

Diagnosis

Diagnosis of Microphthalmia, Lentz type is based on clinical evaluation, family history, and genetic testing. Genetic testing can confirm the presence of mutations in the BCOR gene, which is crucial for a definitive diagnosis.

Management

Management of Microphthalmia, Lentz type is symptomatic and supportive. It may involve:

• Ophthalmologic interventions to address vision problems
• Audiological assessments and hearing aids for hearing loss
• Orthopedic evaluations for skeletal anomalies
• Developmental therapy to support learning and development

Prognosis

The prognosis for individuals with Microphthalmia, Lentz type varies depending on the severity of the symptoms and the presence of associated anomalies. Early intervention and supportive care can improve quality of life and functional outcomes.

Also see

• Microphthalmia
• Coloboma
• X-linked recessive inheritance
• BCOR gene

External

• Age-Related Macular Degeneration

• Amblyopia (Lazy Eye)

• Anophthalmia and Microphthalmia

• Astigmatism

B

• Behçet's Disease* Bietti's Crystalline Dystrophy

• Blepharitis* Blepharospasm

C

• Cataracts

• Coloboma

• Color Blindness

• Corneal Conditions

D

• Diabetic Retinopathy

• Dry Eye

F

• Floaters

G

• Glaucoma

I

• Idiopathic Intracranial Hypertension

L

• Low Vision

M

• Macular Edema

• Macular Hole

• Macular Pucker

P

• Pink Eye

R

• Rare Diseases

• Refractive Errors

• Retinal Detachment

• Retinitis Pigmentosa

• Retinoblastoma

• Retinopathy of Prematurity

S

• Stargardt Disease

U

• Usher Syndrome

• Uveitis

V

• Vitreous Detachment