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Rule #3. Jay C Bradley MD Sandra M Brown MD. Case. Chief Complaint: left eye crosses HPI 18 month old healthy girl Left eye crossing intermittently for 4-5 mos More noticeable when tired Worsening overall PMH Normal pregnancy, delivery, development. Family History. Bilateral OA.

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rule 3

Rule #3

Jay C Bradley MD

Sandra M Brown MD

slide2
Case
  • Chief Complaint: left eye crosses
  • HPI
    • 18 month old healthy girl
    • Left eye crossing intermittently for 4-5 mos
    • More noticeable when tired
    • Worsening overall
  • PMH
    • Normal pregnancy, delivery, development
family history
Family History

Bilateral OA

Unable to drive legally; problem detected < 1st grade

?

examination
Examination
  • Normal visual attention for age
  • Bruckner – large superior crescents OU
  • ITT
    • One refixation OD
    • No movement OS
  • Motility
    • Orthophoria at distance
    • Orthotropia with 8-10 PD esophoria at near
    • Versions full w/o oblique overaction
slide5
Penlight exam
    • Normal OU
  • Fundus exam
    • Small optic nerves with indistinct borders OU
    • Mild macular hypoplasia OU
    • Lightly pigmented throughout
  • Refraction
    • +5.50 + 1.00 x 95 OD
    • +6.00 + 1.00 x 90 OS
hereditary optic nerve atrophy
Hereditary Optic Nerve Atrophy
  • Bilateral gradual loss of central vision
    • VA 20/40 to 20/100
    • Long term prognosis – rarely < 20/200
  • Generally starts in first decade
  • Dyschromatopsia
  • Ceocentral or paracentral scotomas with preserved peripheral field initially
slide7
Optic discs
    • Temporal pallor
    • Triangular temporal excavation
  • Inheritance
    • Usually autosomal dominant
    • Occasionally autosomal recessive
    • Phenotype varies by rate of vision loss
slide9
Brown’s Rules of Pediatric Ophthalmology
    • #1 Don’t make the child cry
    • #2 Don’t let the child make you cry
    • #3 Everything in pediatric ophthalmology makes sense
  • Lee Jampol’s Clinic Rule
    • Try not to give the patient more than one disease
slide10
McCartney’s Rule
    • A patient may have as many diseases as they wish
slide11
All blonde

Bilateral OA

Unable to drive legally; problem detected < 1st grade

?

ET

Thick glasses

albinism
Albinism
  • Foveal hypoplasia
    • Critical clinical feature
  • Iris transillumination defects
    • Very difficult to detect in young kids
  • Minimal fundus pigmentation
  • Light-skinned
    • Doesn’t tan easily
    • “very light hair when young”
slide13
Sensory nystagmus
    • Foveal function in infancy < 20/200 OU
  • High hyperopia
  • Accommodative esotropia
  • Poor binocular stability
    • Abnormal ganglion cell decussation
  • Amblyopia
racial differences
Racial Differences
  • Caucasians
    • Tyrosinase gene mutations
  • African Americans
    • Intermediate phenotype
    • P gene mutations
always on the boards
Always on the Boards
  • Chediak Higashi syndrome
    • White cell dysfunction
    • Recurrent infection
  • Hermansky Pudlak syndrome
    • Bleeding diathesis
    • Increased frequency in Puerto Ricans
old style albinism genetics
“Old Style” Albinism Genetics

Type Location Locus Gene Product Function

OCA1 11q TYR Tyrosinase Enzyme

OCA2 15q P P Protein Membrane

OCA3 9q TYRP1 TYRP1 Enzyme

OA1 Xp OA1 OA1 Protein Membrane

HPS1 10q HPS1 HPS1 Protein Vesicle

HPS2 5q ADTB3A B-3A-adaptin Vesicle

CHS1 1q CHS1 CHS1 Protein Vesicle

new thinking phenotype spectrum
New Thinking: Phenotype Spectrum

“Chalky white”

Acuity < 20/200

Sensory nystagmus

“Ordinary”

~ 20/30

leaky vs non leaky mutations
Leaky vs Non-Leaky Mutations
  • Leaky mutations
    • Some enzyme production
  • Non-leaky mutations
    • No enzyme production
    • OCA-1B no activity “chalk white”
    • OCA-1A partial activity “darkens down”
  • Mom + Dad = net enzymatic deficiency
rule 31
Rule #3
  • “Better Fit” Diagnosis – Mild Albinism
    • Fundus appearance
    • Hyperopia
    • Esotropia
    • Family history
      • pigmentation
      • “thick glasses” = high hyperopia
      • Esotropia
a cruel genetic lottery
A Cruel Genetic Lottery
  • Might our patient have inherited AD optic nerve atrophy too?
  • Nothing rules it out.
  • Watch for disc pallor
  • Watch for decreased visual acuity resistant to refraction
albinism treatments
Albinism Treatments
  • Glasses for refractive error
    • UV protection medically indicated
  • Patching for amblyopia
    • Atropine – must consider UV issues
  • Surgery for residual esotropia
  • Surgery for compensatory head turns
  • Education about sunblock
  • Education about genetics
can this get better on its own
Can This Get Better on Its Own?
  • YES!
    • Subset of patients with seemingly total foveal hypoplasia at < 1 yo
    • Gradual production of foveal pigment over first 5 years of life
    • Nystagmus slows down, might “stop”
  • Difficult to predict which kids will improve
  • Clinical observation: very smart kids
the amarillo effect
The Amarillo Effect
  • Many referrals for “can’t refract to 20/20”
  • Tow-headed kid and sibs/mom
  • Mild foveal hypoplasia
    • Normal “light end of spectrum” peripheral pigmentation for a Caucasian
  • Mild to moderate hyperopia
    • Not enough to cause bilateral amblyopia
  • Especially boys
ad