Authors:
Dr. Maha Mameesh, Sultan Qaboos University Hospital, Muscat, Oman, and Alexandria University, Egypt
Dr. Anuradha Ganesh, Sultan Qaboos University Hospital, Muscat, Oman
A 7-year-old boy is brought in by his parents after they noticed him bringing objects closer to his eyes to see them better over the last 3 months. He reports normal night vision, denies photophobia, is systemically well except for some speech difficulties and poor concentration at school, and is on no medications. His parents are first cousins. An aunt from the maternal side had a similar history of visual impairment, developed seizures, and passed away at the age of 12 years. Examination reveals a best‑corrected visual acuity of 20/200 in each eye. Anterior segment examination is normal in both eyes.
Fundus examination is notable for generalized disc pallor, more so temporally, mild arteriolar attenuation, macular atrophy with a “bull’s eye” pattern and pigmentary mottling in the mid–periphery (Fig. 1).
OCT macula shows atrophy of the subfoveal outer retina (Fig. 2).
Fundus autofluorescence shows enlargement of the normal foveal hypoautofluorescence surrounded by hyperautofluorescence (Fig. 3).
Very useful (educative) quiz
thanks a lot
Nice
Nice one
Good information gain but i failed to assess the handouts
very informative case
Loved it.
Very good case . Thank you for sharing
Nice
Very useful
Fantastic
Wonderful lessons
Very illustrated presentation of a case
For me, the genetic diagnosis is the most important thing, there is a pathogenic variant of the CRB1 gene, whose phenotype is confused with Stargardt disease, it is a deletion that does not cause frame-shift, it is c.498_506 DEL and it is very similar to this case, although due to the family history, the suspicion is of lysosomal disease and it is very necessary to have the genetic diagnosis because there may be a clinical trial of gene therapy in progress
Very interesting.
Nice
Am really gaining some deeper information and am enjoying it
Kindly allow the information to be more regular
Am really gaining some deeper information
Very educative quiz.
Very useful testing
Very nice quizz
Thank you.
Interesting case
very interesting case
thank you for sharing
Good
Thanks for the quiz, it keeps us updated and researching
This training is very deep and highly informative, our challenge here is network, I missed a webinar on glaucoma yesterday just because of poor connection
Very usefuul for me
Very helpful topic
Good
Great I got all the answers at first attempt, I am getting better too. Thanks so much for such a wonderful opportunity