Download Haytac, P

Case History:
• A 32 yo WM presents with dull aches OU associated with high
intraocular pressure OD
• Medical History: Atrial septal defect
• Ocular History: Congenital retinal disinsertion syndrome and cataract
OD
• No systemic medications
• Ocular medication: unknown glaucoma drops non-compliant to dosing
frequency
Pertinent Findings:
BCVA: OD LP and OS 20/400 with nystagmus
Pupils: 1+APD OD with anisocoria and unequal size in bright and dim
illumination
Exophthalmometry: 15/16 mm OD/OS
• Biomicroscopy: OD: Iris rubeosis with PAS, dense opacified lens
material gravitated in posterior chamber, narrow Van Herick angles
• Goldmann: 52/16 mmHg
• Gonioscopy: OD: open to schwalbe’s superior/inferior and anterior TM
temporal/nasal
OS: open to posterior TM superior/inferior/temporal and anterior TM
nasal.
• Posterior Segment:
OD: Obstructed abnormal disc appearance with retinal vascular stalk off
optic nerve accompanied by hyperplasia and peripheral chorioretinal
atrophy.
OS: Pale nerve, significant vascular ischemia, hyperplasia 360,
peripheral chorioretinal atrophy, pigmented hole and atrophic hole
inferior temporally.
Differential Diagnosis:
• Congenital retinal disinsertion syndrome with narrow angle glaucoma
OD and gyrate atrophy OU
• Persistent hyperplastic primary vitreous with narrow angle glaucoma
OD and gyrate atrophy OU
• Retinitis Pigmentosa OU with narrow angle glaucoma OD and gyrate
atrophy OU
Diagnosis and Discussion:
•Congenital retinal disinsertion syndrome is caused by the failure of the
invaginating anterior optic cup to contact the posterior layer of the
retina resulting in a fluid filled space.
• Ocular findings relate to an enucleated eye from a two-month old
infant with glaucoma found to contain two developmental anomalies
which have opposite effects on ocular size: congenital nonattachment of
the retina and dysplasia of the chamber angle (Foos et al)
•Rubeosis irides has been described as concomitant of retinal
detachment and a similar, but still unknown, mechanism may have been
operative in this case of congenital retinal disinsertion syndrome. (Foos
et al)
• Two groups have been identified for the above diagnosis. Our patient
has the best fit for group two. It includes healthy children with a
unilateral detachment often associated with microphthalmos and
cataracts (Boniuk and Hittner)
Ocular Management:
•Treatment: Simbrinza OD TID with follow-up schedule in 4 days for IOP
check. Advised that use of drops are prescribed to keep eye pain free.
Follow patient for routine IOP check
•OCT, fundus photography, B-scan and referral to low vision.
Conclusion:
Although correction of an underdeveloped eye is not possible, proper
referral for use of low vision devices and rehabilitation can help
maximize daily activities.
References:
Foos RY, Kiechler RJ, Allen RA. Congenital nonattachment of the retina.
Am J Ophthalmol 1968:65:208, 210
Boniuk M, Hittner HM. Congenital retinal disinsertion syndrome. Trans
Am Acad Ophthalmol Otolaryngol 1975;79:833