Corneal Granular Dystrophy refers to a rare genetic disorder characterized by the accumulation of tiny deposits in the transparent outer layer of the eye called the cornea. Also known as Granular Corneal Dystrophy type 2, this condition is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the gene mutation to their offspring.
Corneal Granular Dystrophy typically manifests in early childhood or adolescence and progresses gradually over time. The main symptom of this condition is the appearance of small, white or grayish opacities within the cornea, which may cause discomfort, blurry vision, and an increased sensitivity to light. These deposits, known as granules or hyaline bodies, are made up of an abnormal protein called TGFBIp, which accumulates in the stroma, the middle layer of the cornea.
As the disease progresses, vision impairment may worsen, and in severe cases, the opacities can lead to corneal scarring and vision loss. However, most individuals with Corneal Granular Dystrophy maintain relatively good visual acuity until later stages of the disease.
Treatment options for Corneal Granular Dystrophy are limited and mainly aim to manage symptoms. Eye drops and lubricants may be prescribed to alleviate dryness and discomfort. In advanced cases, surgery may be recommended, including corneal transplantation or a procedure called phototherapeutic keratectomy (PTK) that uses a laser to carefully remove the affected corneal tissue.
Regular eye examinations and genetic counseling are essential for individuals diagnosed with Corneal Granular Dystrophy and their family members to ensure early detection, appropriate management, and informed family planning decisions.
