Phakomatoses Flashcards
Tuberous sclerosis
A) which chrom
B) inheritence
C) 4 findings
Chrom 9 Ad 1) adenoma sebaceum (malar like rash) 2) shagreen patch (skin finding) 3) ash leaf spot (hypopig macule) 4) retinal astrocytic hamartomas (mulberry lesion)
Kids usually have epilepsy
Name nf 1 findings (name 6 starting from skin to eye to bone)
- Cafe au lait spots
- Plexiform neurofibroma of lid
- Lisch nodules
- Combined hamartoma of rpe
- Cranial bone defects (absent sphenoid wing w pulsatile exophthalmos)
- Optic n glioma
Vhl
Chrom?
Inher?
5 tumors ass w it
Chrom 3 defect in tumor suppressor gene Ad 1) retinal cap hemangioma 2) pheo 3) rcc 4) cerebellar hemangioblastoma 5) epididymal tumors
Whats the spahgetti crazy retinal vascular tumor?
Wyburn mason
Racemose hemangioma
What systemic findings do you worry about w wyburn mason?
Cns avm in the midbrain
Retinal cavernous hemangioma what does it look like?
Cluster of grapes
Whats organoid nevus syndrome? 3 findings?
1) alopecia
2) epibulbar mass like a dermoid
3) choroidal osteoma
Ataxia telangiectasia Inher Other name Main findings Systemic risk?
Ar
Louis barr
Conj telangiectasia
Immunodeficiencies due to lack of iga
What do the numerals on a gvf mean?
I-V stimulous size
1-4 brightness of stimulous
e filter
Whats a scotoma?
Dark spot in vf surrounded by area of seeing
Whats a depression on vf?
Inward shift in a portion of an isopter
What causes halos at night in post lasik?
Pupil dilates at night
Spherical abberation light goes thru untreated k
Myopic defocus
This happens more in high refractive errors and small ablation zone
Whats abbe value?
High abbe value is good
It means less chromatic aberration
Its a property of glass
Steps in fitting rgp
Choses bc 0.5 steeper than low k
Switch to minus cyl
Drop cyl
Get ks
What do u do if cl is too steep?
Incr bc or decr diameter