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Retinal dystrophies

A range of hereditary retinal dystrophies is presented to test the practitioner's recognition, interpretation and knowledge skills

Image A

Image A Bests Disease

A 15-year-old male patient presents for a routine sight test.

01 What type of lesion is the arrow pointing to?

a) ‘Egg yolk’ lesion at the macula
b) Soft drusen
c) Macular hole
d) Choroidal neovascular membrane

02 Which retinal layer does the lesion affect?

a) Retinal nerve fibre layer
b) Retinal pigment epithelium
c) Choriocapillaris
d) Ganglion cell layer

03 Which stage of the disease is this commonly classified as?

a) Stage 1 pre-vitelliform
b) Stage 2 vitelliform
c) Stage 3 pseudohypopyon
d) Stage 4 vitelliruptive

Image B

Image B showing gyrate atrophy
Image B

A 25-year-old female patient presents with reduced peripheral vision.

04 What abnormality is represented in the image?

a) Peripheral retinal tears
b) Retinoschisis
c) Gyrate atrophy
d) Retinitis pigmentosa

05 Which of the following would be least likely to be associated with this presentation?

a) Myopia
b) Posterior subcapsular cataract
c) Nyctalopia
d) A:V nipping of the retinal veins

06 Which of the following diseases has a similar inheritance to the above condition?

a) Stickler syndrome
b) Ocular albinism
c) Choroideremia
d) Leber’s congenital amaurosis

Image C

Image C showing RP

A 20-year-old patient presents with reduced night vision.

07 Which sign is not commonly observed on examination of patients with the condition shown?

a) Peripheral retinal bone spicule pigmentation
b) Arteriolar narrowing
c) Waxy optic disc
d) Anterior polar cataract

08 Which is the most common syndrome linked to the condition shown?

a) Kearns-Sayre syndrome
b) Bardet-Biedl syndrome
c) Usher syndrome
d) Refsum disease

09 How can the condition shown be inherited?

a) Autosomal Dominant
b) Autosomal Recessive
c) X linked
d) All of these options

Image D

Image D showing Stargardts

A 25-year-old female patient presents with visual acuities of 6/36 in both eyes.

10 Which condition is shown in the image?

a) Wet AMD
b) Cone dystrophy
c) Pathological myopia
d) Stargardt disease

11 What diagnostic test is being used?

a) Fluorescein angiography
b) Fundus autofluorescence
c) Optical coherence tomography
d) Red-free fundus photograph

12 What are the yellow and red arrows pointing to?

a) Pisciform lipofuscin flecks and RPE atrophy
b) Hard drusen and macular oedema
c) Soft drusen and neovascular membrane
d) Dot retinal haemorrhage and macular atrophy

About the authors

Prashant Shah MCOptom, PGDopOphth, DipClinOptom is an optometrist with postgraduate diplomas in ophthalmology and in clinical optometry, and works in routine practice. Yashita Shah MCOptom, PGDipOphth is an optometrist working in independent practice. She hold a postgraduate diploma in ophthalmology.


The authors and publishers acknowledge the University of Iowa and EyeRounds.org for permission to reproduce this copyrighted material from http://webeye.ophth.uiowa.edu/eyeforum/atlas/index.htm for Image B.