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Dystrophy

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“Dystrophy” can refer to several conditions. Which one do you mean?
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“Dystrophy” can refer to several conditions. Which one do you mean?

Mixed dystrophy

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corneal dystrophies AND TGFBI

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mixed corneal dystrophy granular lattice Avellino dystrophy overview

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granular lattice corneal dystrophy Avellino corneal photograph slit lamp

Clinical photograph of the right eye obtained via slit-lamp biomicroscopy, demonstrating characteristic features of Avellino Corneal Dystrophy (Granular Corneal Dystrophy Type II). The image reveals multiple, discrete, crumb-like (granular) white opacities located within the anterior to mid-corneal stroma. Interspersed among these granular deposits are fine, branching, lattice-like lines and interconnected patterns. The surrounding corneal stroma remains relatively clear between the lesions. A vertical slit-lamp beam illuminates the cornea, highlighting the depth and morphology of the stromal deposits. This pre-operative image serves as a baseline for identifying TGFBI-related corneal dystrophies, which are critical contraindications for refractive surgeries like LASIK due to the risk of accelerated post-surgical amyloid and granular deposition.

Clinical photograph of the right eye obtained via slit-lamp biomicroscopy, demonstrating characteristic features of Avellino Corneal Dystrophy (Granular Corneal Dystrophy Type II). The image reveals multiple, discrete, crumb-like (granular) white opacities located within the anterior to mid-corneal stroma. Interspersed among these granular deposits are fine, branching, lattice-like lines and interconnected patterns. The surrounding corneal stroma remains relatively clear between the lesions. A vertical slit-lamp beam illuminates the cornea, highlighting the depth and morphology of the stromal deposits. This pre-operative image serves as a baseline for identifying TGFBI-related corneal dystrophies, which are critical contraindications for refractive surgeries like LASIK due to the risk of accelerated post-surgical amyloid and granular deposition.

Mixed dystrophy usually means combined granular-lattice corneal dystrophy, also called:
  • Granular corneal dystrophy type 2 (GCD2)
  • Avellino corneal dystrophy
It is an inherited, usually autosomal dominant, corneal disorder caused by a mutation in the TGFBI gene. The cornea develops two types of deposits:
  • Granular, white crumb-like deposits made largely of hyaline
  • Fine lattice-like branching deposits containing amyloid
Slit-lamp appearance of Avellino granular-lattice corneal dystrophy

Clinical features

  • Usually affects both eyes
  • Corneal spots may become apparent in childhood or adolescence
  • Glare, light sensitivity, intermittent blurred vision
  • Mild recurrent corneal erosions can cause pain, watering, and foreign-body sensation
  • Vision often worsens gradually later as deposits accumulate

Diagnosis

An ophthalmologist identifies the characteristic deposits on slit-lamp examination. Genetic testing for TGFBI can confirm the diagnosis and assist family counseling. NCBI’s condition summary describes its autosomal dominant inheritance and combined granular plus amyloid deposits.

Management

  • Observation if vision is good
  • Lubricating drops or ointment for surface irritation or erosions
  • Procedures such as phototherapeutic keratectomy or corneal transplantation only if opacity significantly reduces vision
  • Avoid LASIK and other corneal refractive surgery, since trauma to the cornea can accelerate deposits and recurrence.
Kanski describes the stellate or annular superficial lesions with possible deeper linear opacities, and notes that corneal trauma can speed progression. Kanski's Clinical Ophthalmology: A Systematic Approach, p. 272.
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