Macular Hypoplasia in Congenital Disorder of Glycosylation Type Ia

Abstract

Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type Ia.

Ophthalmic manifestations of congenital protein C deficiency: a case report and mini review

“…Despite complete treatment, the process of ocular changes could be progressive as seen in corneal opacity [21]. Wang et al reported association of PC deficiency with other hypercoagulability states as protein S and antithrombin III deficiency, as well as borderline hypothyroidism [24]. We have not seen such an association.…”

“…Bilateral central retinal vein occlusions, vitreous hemorrhage, and a right central retinal artery occlusion Case 2. Total retinal detachment and a left macular hemorrhage Paysse EA [2002] [ 19 ] 1 OU Flat anterior chamber Bilateral retinal detachment, fibrotic hyaloid arteries Sirachainan N et al [2003] [ 20 ] 2 OU Preserving eye function, high myopia, cerebral palsy Park UC et al [2005] [ 21 ] 1 OU Bilateral corneal opacity, microphthalmia, posterior synechia, pupillary membrane, shallow anterior chamber Vitreoretinopathy suggesting, PHPV, intravitreal masses, funnel-shaped retinal detachment with bilateral retinal dysplasia Bilateral leukocoria, no microphthalmos, blind OU de Lemus-Varela ML [2005) [ 22 ] 1 OU Vitreous hemorrhage Douglas AG et al [2010] [ 23 ] 1 OU No red reflex OU Vitreoretinal dysplasia, severe hazy media in one eye and OU PFV Leukocoria OS, bilateral microphthalmia,, deranged VEP, poor vision, nystagmus Wang BZ [2012] [ 24 ] 1 OU Macular hypoplasia with blond retinal background Doll’s eye movements, no fix and follow movement of the eyes, ponto-cerebellar hypoplasia, nystagmus, strabismus, Flat ERG Desai S et.al. [2014] [ 25 ] 1 OU Combined central retinal venous and arterial obstruction Severe Type II protein C deficiency with factor V Leiden mutation, Glaucoma Almarzouki HS et al [2016] [ 26 ] 2 OU Peter’s anomaly Baothman AA et al [2017] [ 27 ] 5 OU Peter’s anomaly, corneal opacity (3/5) Blindness (4/5OU), ocular hemorrhage shortly after birth resulted in visual loss (1/5) Present study …”

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

“…Spontaneously corrected visual inattention has been reported. 54 Cortical blindness has been rarely described and was transient in two patients. 40 Other less common reported ophthalmological manifestations included night blindness, narrow retinal vessels, macula hypoplasia or aplasia, optic nerve involvement, optic disc pallor, ptosis, enophthalmos, iris coloboma and cataract.…”

“…Pancreatic biopsy (available for one patient) revealed normal histology . The hyperinsulinemic hypoglycemia successfully responded to oral diazoxide . Subtotal pancreatectomy was required in only one patient with hyperinsulinemia who responded well to diazoxide but developed severe hyponatremia as a side effect .…”

“…108 The hyperinsulinemic hypoglycemia successfully responded to oral diazoxide. 10,20,54,70,78,99 Subtotal pancreatectomy was required in only one patient with hyperinsulinemia who responded well to diazoxide but developed severe hyponatremia as a side effect. 99 The outcome of the hypoglycemia in the other 14 patients was not available.…”