To the editor
Sir: In their study of the prevalence of macular cysts in clinical cone-rod dystrophy, Salvatore and colleaguesCitation1 found none of 36 clinical cone-rod dystrophy patients had macular cysts by spectral-domain optical coherence tomography. The patients did not have genetic diagnosis other than three patients who were found positive for possible, likely, or definite disease-causing sequence variations in ABCA4 (Mendelian Inheritance in Man [MIM] *601691).
While I agree that macular cysts are very rare in clinical cone-rod dystrophy, I would like to highlight that we recently documented macular cysts in one genetic form of cone-rod dystrophyCitation2 – that from recessive mutations in CRB1 (MIM *604210). While CRB1 mutations often are most often associated with rod-cone dystrophy or Leber congenital amaurosis, the CRB1-related phenotypic spectrum includes childhood cone-rod dystrophy with macular cystic degeneration.Citation2
Declaration of interest
The author reports no conflicts of interest. The author alone is responsible for the content and writing of the paper.
References
- Salvatore S, Genead MA, Fishman GA. The prevalence of macular cysts in patients with clinical cone-rod dystrophy determined by spectral-domain optical coherence tomography. Ophthalmic Genet 2013 Jun 12. [Epub ahead of print]
- Khan AO, Aldahmesh MA, Abu-Safieh L, Alkuraya FS. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation. Ophthalmic Genet 2013 Jun 14. [Epub ahead of print]