Choroidal and Vitreoretinal Dystrophies

Question 1

Choroideremia

Answer 1

progressive degeneration of choroid and RPE photoreceptor complex
XLR inheritance- males only affected

Question 2

Symptoms of Choroideremia

Answer 2

initially poor night vision
followed by peripheral VF loss
progress to severe visual loss

Question 3

Fundus Appearance of Choroideremia

Answer 3

RPE mottling near equator
progresses to areas of RPE dropout
macula effected in late stage
eventually sclera exposed

Question 4

Diagnosis of Choroideremia

Answer 4

progression of signs/ symptoms
scotopic ERG unrecordable early, photopic abnormal later
FA shows loss of choriocapillaris; intact fovea surrounded by hypofluorescence

Question 5

Mx of Choroideremia

Answer 5

LV services

Question 6

Gyrate Atrophy

Answer 6

metabolic disorder resulting in high ornithine levels- causes chorioretinal atrophy- legal blindness

Question 7

Presentation of Gyrate Atrophy

Answer 7

myopia and poor vision in dim light
patches of RPE atrophy with scalloped borders in midperiphery
bare sclera late
early onset cataract

Question 8

Diagnosis of Gyrate Atrophy

Answer 8

always myopic
AR inheritance- females affected
elevated ornithine

Question 9

Mx of Gyrate Atrophy

Answer 9

correction for myopia
surgery for cataract
Vit B6 (pyridoxine) supplements
LV services

Question 10

Juvenile X- Linked Retinioschisis

Answer 10

inherited retinal splitting of macula
fovea always affected, peripheral affected in half
mainly males affected

Question 11

Presentation of Juvenile Retinoschisis

Answer 11

boys with decreased central vision due to maculopathy
foveal schisis with radiating striae
peripheral schisis mainly inferotemporally

Question 12

Mx of Juvenile Retinoschisis

Answer 12

CAIs for foveal cystic changes
vitrectomy for vitreal hemorrhage
surgery for RD

Question 13

Stickler Syndrome

Answer 13

connective tissue disorder leading to RD in children

Question 14

Systemic Features Associated with Stickler Syndrome

Answer 14

facial anomalies- depressed nose bridge
oral- cleft palate
skeletal- osteoarthritis
deafness

Question 15

Ocular Presentation of Stickler Syndrome

Answer 15

high myopia in early childhood
early cataracts- cortical
vitreous degeneration
radial lattice retinal degeneration in periphery
RD

Question 16

Mx of Stickler Syndrome

Answer 16

watch for RD
correct myopia
systemic eval

Question 17

Familial Exudative Vitreoretinopathy

Answer 17

peripheral retinal nonperfusion causing NV and exudation

temporal periphery lacks vascularization

Question 18

Symptoms of Familial Exudative Vitreoretinopathy

Answer 18

infants with leukocoria or strabismus

blurred vision later in life

Question 19

Signs of Familial Exudative Vitreoretinopathy

Answer 19

termination of retinal vessels with scalloped borders
tortuous vessels in periphery
fibrovascular proliferation and vitreoretinal traction pulls vessels, macula, disc temporally

Question 20

Complications of Familial Exudative Vitreoretinopathy

Answer 20

RD
subretinal exudation
vitreous hemorrhage
cataract
glaucoma

Question 21

Mx of Familial Exudative Vitreoretinopathy

Answer 21

laser photocoagulation or cryotherapy of avascular retina

surgery for RD