Blind spots
What is macular degeneration
Fatty deposits build up in macula, degeneration of photoreceptors - affects central vision, visual sharpness
What are the 3 main syndromic retinal dystrophies?
Usher, Bardet Biedl, Joubert
List the different types of albinism
Oculocutaneous albinism
Ocular albinism
Syndromic albinism
When diagnosing a cone-rod/rod-cone dystrophy, what test is useful in differentiating whether the cones or rods were affected first?
Electroretinogram (ERG) - measures electrical response of rods and cones. More impacted one has less electrical activity, likely that one was affected first
List 1 similarity and 1 difference between achromatopsia and Congenital Stationary Night Blindness (CNSB)
Similarity - Night blindness/difficulty seeing at night, can be AR, have 2 categories: complete and incomplete (varying degrees of severity)
Difference - CNSB has normal color vision & achromatopsia has color vision defects, Achromatopsia only AR & CNSB can be AD/AR/XL
What category of IRDs does achromatopsia fall under?
Cone dystrophy
Rods are unaffected
Eye findings: Retinal dystrophy/LCA, Ocular colobomas
Other findings: Molar tooth sign on brain MRI, hypotonia, developmental delay
Joubert Syndrome
Optic atrophy is associated with what condition?
Wolfram Syndrome
Your patient has a fluorescein angiography performed. The ophthalmologist is worried about FEVR based on the results. Why?
Name the condition that is mitochondrial inheritance
Leber hereditary optic neuropathy (LHON)
Difference between RP and LCA
LCA can have non-ocular symptoms: Developmental delay, ID, renal issues
LCA AR only, RP AD/AR/XL
Both affect night vision, tunnel vision, sharpness
Ocular findings: Rod-cone dystrophy
Other findings: Postaxial polydactyl, ID, obesity, kidney disease, dental abnormalities, partial/complete loss of smell
Bardet Biedl Syndrome
What are other concerns for syndromic albinism in additional to visual impairment
Depends on specific condition, but common concerns among the 3 conditions are...
Bleeding issues
Immunodeficiency
HPS - Pulmonary fibrosis
CHS - Neurologic disease
Your patient was recently diagnosed with RP - what test is useful in determining how much of their peripheral vision is affected?
Goldmann Visual Field (GVF) - measures the visual field, gives info for central and peripheral vision
Sort these conditions into which are stable or progressive for vision impairment:
Retinitis pigmentosa
Albinism
Achromatopsia
Leber congenital amaurosis (LCA)
Stargardt
Stable: Albinism, achromatopsia
Progressive: Stargardt, Retinitis pigmentosa,
Leber congenital amaurosis (LCA)
Your patient reports no difficulty seeing at night, but has blind spots in their vision which bother them. What conditions are on your differential?
Retinitis pigmentosa
Leber congenital amaurosis
Stargardt disease
No info given on whether central or peripheral is affected
Ocular findings: Childhood/adolescent onset retinitis pigmentosa
Other findings: Bilateral sensorineural hearing loss, balance concerns
Usher Syndrome
These 2 conditions affect the central vision
Stargardt, LHON
Name a condition that has coloboma
CHARGE
What conditions is Luxterna approved for?
LCA2, RP
Patient presents with difficulty seeing at night. What non-syndromic conditions are on your differential?
RP, LCA - early stages of condition
Achromatopsia/cone dystrophy
Congenital Stationary Night Blindness (CNSB)
Report inheritance pattern for each of the syndromes below:
Usher Syndrome
Bardet Biedl Syndrome
Joubert Syndrome
Usher - AR
BBS - AR
Joubert - AR, XL, digenic
Name 1 similarity and 1 difference between Wolfram Syndrome and Usher Syndrome
Similarity: Sensorineural hearing loss, childhood/adolescence onset of vision impairment, AR inheritance
Difference: Wolfram associated with diabetes & Usher with balance issues, Wolfram can have neurological issues
How are IRDs treated?
Gene therapy
Medications
Vitamins
Stem cells, protheses
Name 1 similarity and 1 difference between FEVR and X-linked juvenile retinoschisis
Similarity: Risk for retinal detachment in both, affects retina
Difference: XLJR XL only & FEVR is AD/AR/XL (AD most common), FEVR can has developmental delay/ID/behavioral issues & hearing loss, FEVR is abnormal blood vessels & XLJR is splitting of nerve fiber layer