Papillorenal syndrome history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shivam Singla, M.D.[2]

Overview

The Ocular and renal anomalies are the most important diagnostic findings representing in patients with characteristic signs and symptoms. Mutation in PAX2 Gene causes optic disc dysplasia and coloboma seen in most of the cases is due to the failure of the choroidal fissure to close. Despite the similarities with Colomba and morning glory anomaly, significant differences exist such that optic disc dysplasia cannot be classified as either one entity. Optic disc dysplasia is noted by an ill-defined inferior excavation, the convoluted origin of the superior retinal vessels, an excessive number of vessels, infrapappilary pigmentary disturbance, and slight band of retinal elevation adjacent to the disk. Some patients have the normal or near-normal vision, but others have visual impairment associated with the disease, though it is not certain if this is due only to the dysplastic optic nerves, or a possible contribution from macular and retinal malformations. The most common malformation in patients with the syndrome is kidney hypoplasia, which is small and underdeveloped kidneys, often leading to end-stage renal disease (ESRD). Estimates show approximately 10% of children with hypoplastic kidneys are linked to the disease. Many different histological abnormalities have been noted, including a decrease in nephron number associated with hypertrophy, focal segmental glomerulosclerosis, interstitial fibrosis, and tubular atrophy, multicystic dysplastic kidney.

History and Symptoms

Ocular Defects

Ocular disc dysplasia is the most notable ocular defect of the disease. An abnormal development in the optic stalk causes optic disc dysplasia, which is caused by a mutation in the Pax2 gene. The nerve head typically resembles the morning glory anomaly, but has also been described as a colomba. A colomba is the failure to close the choroid fissure, which is the opening from the ventral side of the retina in the optic stalk. Despite the similarities with colomba and morning glory anamoly, significant differences exist such that optic disc dysplasia cannot be classified as either one entity.

Optic disc dysplasia is noted by an ill-defined inferior excavation, the convoluted origin of the superior retinal vessels, excessive number of vessels, infrapappilary pigmentary disturbance, and a slight band of retinal elevation adjacent to the disk. Some patients have a normal or near-normal vision, but others have visual impairment associated with the disease, though it is not certain if this is due only to the dysplastic optic nerves, or a possible contribution from macular and retinal malformations. The retinal vessels are abnormal or absent, in some cases having small vessels exiting the periphery of the disc. There is a great deal of clinical variability.

Kidney Defects

The most common malformation in patients with the syndrome is kidney hypodysplasia, which are small and underdeveloped kidneys, often leading to end-stage renal disease (ESRD). Estimates show approximately 10% of children with hypoplastic kidneys are linked to the disease. Many different histological abnormalities have been noted, including:

• Decrease in nephron number associated with hypertrophy
• [[Focal segmental glomerulosclerosis[[
• interstitial fibrosis and tubular atrophy
• Multicystic dysplastic kidney

Common Organs Affected And Their Menifestations In Patients With Renal-coloboma Syndrome

EYE MENIFESTATION	RENAL MENIFESTATION	URETERAL MENIFESTATIONS	SKELETAL MENIFESTATIONS	SKIN MENIFESTATIONS	NEUROLOGIC MENIFESTATIONS
Optic Nerve Dysplasia	Renal Hypoplasia	Vesicoureteral reflux	Joint laxity	Hyperextandable skin	Normal intelligence
Coloboma of optic nerve	Renal cyst	Pyeloureteral duplication (Rare)		Soft skin	Seizure disorder
Optic disc dysplasia	End-stage renal disease				Arnold Chiari type I malformation
Optic disc hyperplasia	Multicystic dysplastic kidneys				Mental retardation (one patient)
Optic disc hypoplasia	CAKUT
Orbital cyst	Medullary sponge kidney (Rare)
Microphthalmia	Nephrolithiasis (Rare)
Abnormal retinal vessel	Horseshoe kidney (Rare)
Absent optic nerve head	Anomalous renal pelvis (Rare)
Chorioretinal degeneration	Renal malrotation (Rare)
Moring glory optic disc	Medullary sponge kidney (Rare)
Macular degeneration (Rare)
Papillomacular detachment (Rare)
Retinal Edema (Rare)
Retinal detachment (Rare)
Retinal staphyloma (Rare)
Cystic degenration of macula (Rare)
Posterior lens subluxation (Rare)
Lens opacity (Rare)
Hyperpigmentation of macula (Rare)

MISCELLANEOUS

Miscellaneous Findings in RCS Syndrome
Lab- Proteinuria
Variable Phenotype
Onset in Infancy
ESRD may require Kidney Transplantation
Ocular abnormalities may be very mild
Caused as a result of paired box homeotic gene 2 mutation