The study aims to study retinal detachment in Knobloch syndrome. Knobloch syndrome is a rare genetic disease affects patients in an autosomal recessive fashion. It is characterized by high myopia, vitreoretinopathy, lens abnormality and macular atrophy.

Study Design:

Retrospective study, case series study.


Consecutive patients who were diagnosed to have Knobloch syndrome with retinal detachment between 2013 and 2017.


Nine eyes of six patients were identified as having rhegmatogenous retinal detachment. The age at diagnoses of retinal detachment was ranging between 2 months and 21 years. The cohort consisted of 4 females and 2 males. All the detachments were spontaneous caused by retinal break in 5 eyes and macular hole in 3 eyes. The detachment resolved spontaneously in one eye (1/9) in which the break could not be localized. The remaining (8/9) eyes underwent either PPV alone in 3 eyes or combined PPV with SB in five eyes. The average number of surgeries was 2.4 surgeries per eye (ranging between 1-4 surgeries). At final visit, seven eyes remained attached (5 eyes remained flat after removal of silicone oil and two eyes were flat with silicone oil in situ). Unfortunately, one eye developed inoperable detachment under silicone oil.


Successful repair of rhegmatogenous retinal detachment in Knobloch syndrome can be achieved in the majority of cases. Early detection of macular hole detachment in this syndrome of paramount importance since it can affect patients in their infancy.


Abdulelah A. AL-ABDULLAH, Sulaiman Al-Suliaman, Marco Mura, Hassan Al Dhibi, Nicola Ghazi
King Khaled Eye Specialist Hospital
Riyadh, Saudi Arabia
Email : hasadoc@gmail.com
Cell Phone: +966501906857
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