Patients and Methods

Unilateral

Bilateral

(n = 54)

(n = 21)

Nothing of note, no

39

14

siblings

Nothing of note,

12

7

siblings healthy

Nothing of note,

2

0

siblings unwell

Positive, no siblings 1

0

Unilateral

Bilateral

(n = 54)

(n = 21)

Nothing of

48

16

note

Noteworthy

6

findings

■

One in vitro

■

One with

fertilization, single

acyclovir

umbilical artery

ingestion before

■

One in vitro

pregnancy,

fertilization,

single umbilical

midcycle bleeding

artery

■

Two with hyperten-

■

One with two

sion requiring

previous early

treatment

miscarriages

■

One with consan-

■

One mother

guinous parents,

with acromeg-

four previous

aly, history of

miscarriages,

pituitary

mother with

adenoma,

Pena–Shokeir

anterior

syndrome (pseudo-

pituitary lobe

trisomy 18)

insufficiency

■

One with three

■

One mother

previous miscar-

with a history

riages, mother with

of completed

partial transposition

treatment for

of chromosome 13

syphilis

to 15

■

One with

nicotine abuse

Unilateral

Bilateral

(n = 54)

(n = 21)

Spontaneous

35

19

Cesarean section

19

2

(of which, before week 36)

(4)

0

Unilateral

Bilateral

(n = 54)

(n = 21)

None/ocular

24

11

findings only

(13 Anophthalmos and

(10

(Fig. 7.1)

11 microphthalmos

Anophthalmos

patients)

and 1 micro-

phthalmos

patients)

None/but

8

(No subdiffer-

developmental

Anophthalmos

entiation

anomaly of

■

Two sclerocornea

possible because

fellow eye

■

One coloboma of

both

(Fig. 7.2)

iris, retina, choroid,

eyes affected)

and optic disc, with

posterior pole

involvement

■

One iris coloboma,

retina intact

■

One nanophthal-

mos with question-

able light

perception

■

One aplasia of

macula/optic disc

■

One central stromal

corneal scar

7

■

One paracentral lens

clouding, persistant

hyperplastic

primary vitreous

(PHPV), aplasia of

macula

Unilateral

Bilateral

(n = 54)

(n = 21)

Associated

14

10

disease; path-

Anophthalmos

■

One external

ology of

■

One clefting of

auditory meatus

fellow eye

lip, upper jaw

absent

(Fig. 7.3)

and palate, ear

unilaterally,

cartilage missing

labyrinthine

(no deafness),

deafness,

corpus callosum

bilateral talipes

hypoplasia;

calcaneus

coloboma of iris,

■

One rudimen-

retina, and chor-

tary sixth finger

oid in fellow eye

on both hands

■

One retardation,

■

One

labyrinthine

plagiocephaly

deafness on

■

One septo-optic

affected side;

dysplasia, corpus

sclerocornea,

callosum aplasia

secondary

■

One Delleman

glaucoma in

syndrome

fellow eye

■

One microceph-

■

One Goldenhar

aly, statomotor

syndrome;

retardation,

contralateral

hearing loss

clefting of lip,

■

One micro-

upper jaw, and

cephaly,

palate, cleft

retardation

tongue; auricular

dysplasia;

external auditory

meatus absent;

preauricular tags

bilaterally; upper

lid coloboma,

lipodermoid of

■

One complex

■

One agenesis of

developmental

corpus callosum,

anomaly

micrognathia,

syndrome with

respiratory

hypertelorism,

failure (died at

bilateral clefting

16 months)

of lip, upper jaw

■

One develop-

and palate,

mental delay,

pre-auricular tag;

labyrinthine

Peters’ anomaly

anomaly

with secondary

■

One myeliniza-

glaucoma

tion disorder

requiring

treatment in

fellow eye

■

One Goldenhar

syndrome;

limbus dermoid,

severe Sjögren

syndrome

symptoms with

corneal

vascularization

in fellow eye

■

One craniofacial

dysmorphism;

sclerocornea in

fellow eye

■

One hexadactyly,

epilepsy;

nanophthalmos

of fellow eye

■

One familial

facial syndrome

and additional

sixth toe; dense

corneal clouding

in fellow eye

■

One cerebral

retardation,

deafness,

septal agenesis;

pitting of optic

disc in fellow eye

■

One massive

growth

retardation; iris

coloboma in

fellow eye

7.3 Results

109

Unilateral

Bilateral

(n = 54)

(n = 21)

Associated

8

(No subdifferen-

disease;

Anophthalmos

tiation possible

fellow eye

■

Two clefting of lip,

because both

unremark-

upper jaw, and palate

eyes affected)

able (Fig. 7.4)

■

One oblique facial cleft

■

One subcortical

cerebral atrophy with

secondary ventricle

enlargement,

hypoplasia of the

corpus callosum

■

One Goldenhar

syndrome; clefting of lip,

upper jaw, and palate;

deafness (suspected

aplasia of cranial nerve

VIII); congenital

clubfoot bilaterally (pes

equino-varus);

developmental

anomalies of extremi-

ties, chest, and vertebrae

■

One unilateral renal

agenesis

■

One atrioseptal defect

Microphthalmos

■

One atrioseptal defect,

unilateral preauricular

tag

Developmental

Legally blind

anomaly

Microphthalmos (n = 16)

4 (25%)

2 (12.5%)

Anophthalmos (n = 38)

18 (47.4%)

13 (34.2%)