Scott Burk, MD/PhD
Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA

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Figure 1-3: Anterior segment photographs of 3 different individuals with the same condition.

1. What is your diagnosis?
   
2. What is the usual presentation for this condition?
   
3. What is the pathophysiology of this condition?
   
4. What is the inheritance pattern of this condition?
   
5. What treatment would you recommend?
   
6. Dose this condition recur?
   

RISPOSTE

1. What is your diagnosis?
   Answer: Macular corneal dystrophy.

    

2. What is the usual presentation for this condition?
   Answer: Progressive, limbus to limbus, full thickness corneal corneal involvement with focal white deposits, and diffuse background haze. Recurrent erosion is not common, but visual loss tends to occur early in the first or second decade of life due to diffuse stromal haze.

    

3. What is the pathophysiology of this condition?
   Answer: Abnormal synthesis of keratin sulfate, resulting in mucopolysaccharide deposition.

    

4. What is the inheritance pattern of this condition?
   Answer: Autosomal recessive.

    

5. What treatment would you recommend?
   Answer: Penetrating keratoplasty is the treatment of choice and is usually performed between 5 to 25 years of age.

    

6. Dose this condition recur?
   Answer: Yes, but recurrence less commonly than lattice or granular dystrophy.