...The Eye in CHARGE
Results
- coloboma 81%, usually bilateral 90% and affecting the posterior segment of the eye (ie. choroid, retina, optic disc)
- rarely involving the iris (1/13)
- >Literature: 79% Tellier et al 1998, 86% Russell-Eggitt et al 1990
- cranial VIII nerve involvement
- 100% had bilateral hearing loss (mixed type)
- 2 with cochlear implants
- >Literature 90-100% Blake, 1998, Krishnan 2002
- facial nerve paresis 88%
- 1 bilateral
- 3/8 left sided
- 3/8 right sided
- >Literature 20-3% Davenport 1998, Lalani 2001
- cranial nerve I involvement 25%
- anosmia
- Right Inferior Oblique paresis 25% (possible third case or R Browns syndrome)
- >Literature - frequent; Russell-Eggitt 1990 noted 4 patients (8%) with limitation of elevation contralateral to their facial palsy
Refractive Errors
- Anisometropia 87%
- Astigmatism 75%
- Myopic Astigmatism 67%
- Hyperpic Astigmatism 25%
- Myopia 12 %
- >Literature - 75% had refractive needing correction, astigmatism was common Russell-Eggitt et al 1990
Results
- strabismas 65%
- 2 with large exotropias and 1 A pattern
- 3 with esotropia
- 2 vertical deviation in primary position (ET, XT)
- Nystagmus 25%
- Strabismic eye was the eye with the higher refractive error & the eye with the more extensive coloboma
- >Literature - Strabismus 34% Russell-Eggit et al 1990
- Nystagmus 17% Telllier et al 1998
- Marcus Gunn Jaw Winking 1 case- Weaver 1997
- 6 patients were capable of being tested for stereopsis
- 83% had no stereopsis
- 1 had 40 seconds of arc on Titmus and 35 seconds on Frisby testing. This was also the only patient that colour vision testing was possible and he had a normal AOHRR result
- 5 our of 8 allowed for visual acuity assessment
- vision ranged from 1/50 to 6/7.5
- 50% had afferent pupil defects
- Visual field testing difficult at best with 1 GVF performed and 4 CVF
- CVF on 2 patients indicated superior visual field defects the remaining were inconsistent
- 1 bilateral cataract central off axis
- 3 keratopathy
- 1 corneal scar
- 1 microcornea
- 1 blepharitis
- 1 staphyloma
- >Literature - couple of reports of cataracts, Feigl 2000, Chestter 1988
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