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Granular corneal dystrophy

AI overview

Granular corneal dystrophy is a slowly progressive corneal dystrophy that most often begins in early childhood.

Key points
  • There are two types: type I (Groenouw type I) and type II (Avellino corneal dystrophy or combined granular-lattice corneal dystrophy).
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    Granular corneal dystrophy has two types
  • Type I was first described by German ophthalmologist Arthur Groenouw in 1890.
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    It was first described by German ophthalmologist Arthur Groenouw in 1890.
  • Type II was first described by Folberg et al. in 1988.
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    The disorder was first described by Folberg et al. in 1988.
  • The name Avellino corneal dystrophy comes from the first four patients tracing their family origin to the Italian province of Avellino.
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    The name Avellino corneal dystrophy comes from the first four patients in the original study each tracing their family origin to the Italian province of Avellino
  • It is caused by a mutation in the TGFBI gene on chromosome 5q31.
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    Granular corneal dystrophy is caused by a mutation in the TGFBI gene, located on chromosome 5q31
  • The disorder is inherited in an autosomal dominant manner.
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    The disorder is inherited in an autosomal dominant manner.
  • The TGFBI gene encodes the protein keratoepithelin.
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    The gene TGFBI encodes the protein keratoepithelin.
Symptoms
  • Lesions consist of central, fine, whitish granular lesions in the cornea.
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    The lesions consist of central, fine, whitish granular lesions in the cornea.
  • Visual acuity is slightly reduced.
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    Visual acuity is slightly reduced.
  • Type II presents with variable sized crumb-like opacities in the corneal stroma that fuse to form elongated and stellate shapes.
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    Variable sized crumb-like opacities in the corneal stroma that have become fused in areas giving rise to elongated and stellate shapes
  • Light sensitivity may occur.
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    Light sensitivity may be overcome by wearing tinted glasses.
Diagnosis
  • It is diagnosed during an eye examination by an ophthalmologist or optometrist.
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    Granular corneal dystrophy is diagnosed during an eye examination by an ophthalmologist or optometrist
Treatment
  • Corneal transplant is not needed except in very severe and late cases.
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    Corneal transplant is not needed except in very severe and late cases.
  • Light sensitivity may be managed by wearing tinted glasses.
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    Light sensitivity may be overcome by wearing tinted glasses.
Prognosis

Slowly progressive

AI-synthesized from the Wikipedia article “Granular corneal dystrophy”. Not medical advice. Verify source →
Granular corneal dystrophy
Granular corneal dystrophy type I, Numerous irregular shaped discrete crumb-like corneal opacities
SpecialtyOphthalmology 

Granular corneal dystrophy is a slowly progressive corneal dystrophy that most often begins in early childhood.

Granular corneal dystrophy has two types:

  • Granular corneal dystrophy type I, also corneal dystrophy Groenouw type I, is a rare form of human corneal dystrophy. It was first described by German ophthalmologist Arthur Groenouw in 1890.[1]
  • Granular corneal dystrophy type II, also called Avellino corneal dystrophy or combined granular-lattice corneal dystrophy[2] is also a rare form of corneal dystrophy. The disorder was first described by Folberg et al. in 1988. The name Avellino corneal dystrophy comes from the first four patients in the original study each tracing their family origin to the Italian province of Avellino.[3]

Granular corneal dystrophy type II, Variable sized crumb-like opacities in the corneal stroma that have become fused in areas giving rise to elongated and stellate shapes

Granular corneal dystrophy is diagnosed during an eye examination by an ophthalmologist or optometrist. The lesions consist of central, fine, whitish granular lesions in the cornea. Visual acuity is slightly reduced.[citation needed]

Granular corneal dystrophy is caused by a mutation in the TGFBI gene, located on chromosome 5q31.[4] The disorder is inherited in an autosomal dominant manner.[5] This indicates that the defective gene responsible for the disorder is located on an autosome (chromosome 5 is an autosome), and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.[citation needed]

The gene TGFBI encodes the protein keratoepithelin.[5]

Corneal transplant is not needed except in very severe and late cases. Light sensitivity may be overcome by wearing tinted glasses.[citation needed]

  1. ↑ Online Mendelian Inheritance in Man (OMIM): 121900
  2. ↑ Online Mendelian Inheritance in Man (OMIM): 607541
  3. ↑ Folberg R, Alfonso E, Croxatto JO, Driezen NG, Panjwani N, Laibson PR, Boruchoff SA, Baum J, Malbran ES, Fernandez-Meijide R (January 1988). "Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of these families". Ophthalmology. 95 (1): 46–51. doi:10.1016/s0161-6420(88)33226-4. PMID 3278259.
  4. ↑ Munier, F. L.; Korvatska, E.; Djemaï, A.; Paslier, D. L.; Zografos, L.; Pescia, G.; Schorderet, D. F. (March 1997). "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies". Nature Genetics. 15 (3): 247–251. doi:10.1038/ng0397-247. PMID 9054935.
  5. 1 2 Paliwal, P.; Gupta, J.; Tandon, R.; Sharma, A.; Vajpayee, R. B. (Oct 2009). "Clinical and Genetic Profile of Avellino Corneal Dystrophy in 2 Families from North India". Archives of Ophthalmology. 127 (10): 1373–1376. doi:10.1001/archophthalmol.2009.262. PMID 19822856.