Disorders of hearing and or vision

Question 1

Blephoriphimosis

Ptosis

Epicanthus inversus

telecanthus

Prematures ovarian failure

Answer 1

BPES type I

3q23

Question 2

Connexin 26

AR

SNHL

molecular testing

Answer 2

GJB2

exon 2 and exon 1 spice site mutations - 4th most common mutation

Question 3

• Oculocutaneous albinism
• Bleeding diathisis
• Also associated with comorbid conditions (3)

Answer 3

• Hermansky Puldak Syndrome (HPS1)
• Pulmonary fibrosis (by age 30)
• Granulomatous colitis
• Neutropenia and or immune defects ( AP3B1 and AP3D1)

Question 4

• Congenital SNHL
• Prolonged QT interval
• iron deficiency anaemia
• elevtions of gastrin
• pathogenic variants in KCNQ1 or KCNE1

Answer 4

• Jervell and Lange Neilson
• K+ volatage gated channel protien
• autosomal recessive
• Heterozygous carriers at risk for AD long QT Romano-Ward Syndrome

Question 5

bilateral, painless,

subacute visual failure

develops during young adult life

nuerologic abnormalities

mtDNA

Answer 5

Leber Hereditary Optic Neuropathy

mtDNA: MTND4 G11778A (70%)

MTND1, MTND6

Question 6

bilateral SNHL

AR

euthyroid Goiter

temporal bone abnormalities

cochler hypoplasia (Mondini malformation)

Answer 6

PENDRED syndrome

SLC26A4 (most common)

chloride iodide exchanger in the inner ear and thyroid

Question 7

complete profound SNHL

balance issues

and eye issues (picture shown)

onset before puberty

Answer 7

Usher Syndrome

Retinitis pigmentosa

Type I

MYO7A

Question 8

progressive mild to moderate SNHL

no balance issues

retinitis pigmentosa develop after puberty

Answer 8

Usher syndrome type 2

USH2A

Question 9

white forlock

dystrophia canthorum

heterochromic irides

neural tube defect

Answer 9

Waardenburg Syndrome type 1

W index > 1.95

• PAX3*
• AD*

Question 10

Waardenburg Syndrome Type

similar to type 1 without dystrophia canthorum

Answer 10

WS2

Question 11

Fetures of waardenburg syndrome type 3

Answer 11

features of type 1 plus

limb hypoplasia and contractures

carpal bone fusion

syndactyly

Question 12

waardenburg syndrome associated with hirschsprung disease

Answer 12

WS type 4

Question 13

FOXL2

Answer 13

Blepharophimosis, Ptosis, and epicanthus inversus

transcriptional repressor of granulosa cell differentiation

Question 14

Connexin 30

AR

Answer 14

GJB6

congenital mild to profound SNHL

MOD: loss of gap junction prevent recycling of toxins and metabolites away from the hair cell leading to their death

Question 15

Absent platelet dense bodies on platelet EM. Prolonged bleeding time

Answer 15

Hurmansky-Pudlack Syndrome

Question 16

Fundus findings

vascular toutuosity of central retinal vessels

circumpapillary telangectatiac macroangiopathy

swelling of the retinal nerve fibres

Answer 16

Lebner Hereditary Optic Neuropathy

focal degeneration of the retinal ganglion cell layer and optic nerve

worsened by smoking and alcohol

Question 17

MOD: for PAX3 Wardenburrg Syndrome

Answer 17

Haploinsufficiency

PAX3 is a homeobox transcription factor involved in melanocyte development