Rule 3
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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

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Rule 3

Rule #3

Jay C Bradley MD

Sandra M Brown MD


Rule 3

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


Rule 3

  • 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


Rule 3

  • Optic discs

    • Temporal pallor

    • Triangular temporal excavation

  • Inheritance

    • Usually autosomal dominant

    • Occasionally autosomal recessive

    • Phenotype varies by rate of vision loss


Rule 3

  • 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


Rule 3

  • McCartney’s Rule

    • A patient may have as many diseases as they wish


Rule 3

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”


Rule 3

  • 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 LocusGene ProductFunction

OCA1 11q TYR TyrosinaseEnzyme

OCA2 15q P P ProteinMembrane

OCA3 9q TYRP1 TYRP1Enzyme

OA1 Xp OA1 OA1 ProteinMembrane

HPS1 10q HPS1 HPS1 ProteinVesicle

HPS2 5q ADTB3A B-3A-adaptinVesicle

CHS1 1q CHS1 CHS1 ProteinVesicle


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-1Bno activity“chalk white”

    • OCA-1Apartial 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


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