Papillorenal syndrome physical examination

Overview

In most of the patients, the symptoms will differ depending upon a case by case basis. People with a similar disease might have a variable presentation and may not have all the mentioned symptoms. This valuable information is usually collected from the database of Human phenotype Ontology (HPO). the HPO usually collects the symptoms the is usually described or mentioned in the various publications and medical resources.

Approx. 80- 98% of the Patients have these Symptoms

Medical Terms	Other Names
Optic Nerve Dysplasia
Renal Insufficiency	Renal failure

Physical examination

Renal-coloboma syndrome- Eyes and renal manifestations observed clinically. Right (A) and Left (B) wide and deeply excavated optic disc shown in the image suggestive of optic disc dysplasia, also called a variant of "Morning glory". Right (C) and Left (D) eye showing bilateral optic disc dysplasia and Macular degeneration of left eye, Surrounded by numerous arrows shown. (E) Glomerulus showing mesangial cell proliferation on hematoxylin and eosin stain

Renal-coloboma syndrome mainly involves eyes and kidneys. The organ specific abnormalities commonly corresponds to tissue specific PAX2 gene expression during the embryonic period. The commonly affected tissues are inner ear, brain (CNS), spinal cord and less commonly urogenital ridge.

Ocular Abnormalities

The eye findings are-

• Enlargement of optic disc with blood vessels seen coming out from the periphery.
• Retinal vessels observed in patients with RCS are more in number and tortuosity as compared to seen in the normal individuals.
• Other eye anomalies seen in patients with RCS are optic nerve dysplasia, morning glory abnormality.
• Less common seen anomalies are:
  • Scleral staphyloma,
  • Optic nerve cyst,
  • Microphthalmia,
  • Reduced corneal diameters
  • Foveal hypoplasia and macular anomalies.

The visual acuity for patients with RCS ranges from normal to marked impairment in vision to near blindness. Nystagmus and strabismus noted in patients involved in different studies may or may not be considered as a part of this syndrome. Anisometric visual acuity also noted in patients with RCS varied from 20/20 in one eye to just mere light perception in the other eye. Other common findings seen in patients on examination includes varying degree of myopia, calcified degeneration of cornea, retinal detachment and/or progressive vision loss.

Renal Abnormalities

Renal malformations are commonly seen in all the patents with RCS and that too even before the apperarence of eye anomalies. Renal abnormalities found in RCS patients with PAX2 gene expression are

• Renal hypoplasia/ hypo dysplasia
  • kidneys that have malformed function with small number of functional glomeruli and can develop ESRD at any point of the disease.
  • Somewhere around 10% of the patients with these kidneys found to have PAX2 gene mutation
• Oligomeganephronia
  • Condition seen in some of the patients with Renal-coloboma syndrome and this usually refers to the marked reduction in number of functionally intact nephrons
  • Compensatory glomerular hypertrophy seen.
  • Glomerulosclerosis and meningeal fibrous deposits are most common findings seen on histopathology.

• Multicystic dysplastic kidneys - These are commonly seen in around 10% of the patients reported with RCS.

• Horse shoe kidney

• ESRD- End stage renal disease can happen anytime during the course of disease.
  • It can be present in the prenatal period with severe presentation of Hypoplastic, aplastic kidneys or in some cases as oligomennorhea that ultimately in some cases leads to the loss of fetus.
  • ESRD can be seen in the prenatal period or in adults in the late seventh decade.

• Other findings- Hypertension, Proteinuria, VUR.
  • Vesicoureteral reflux can be present in association to patients with RCS but in most of the cases this resolves spontaneously.
  • In severe cases it can be further complicated with infections of urinary tract and fluid collection in the kidneys due to back flow( hydronephrosis) ultimately requiring the surgery for the resolution of condition.

Auditory findings

• Hearing loss can be seen in only 10% of the patients affected with Renal-coloboma syndrome.
  • As PAX2 gene expression during the childhood regulates the cochlear development, a mutation in PAX2 gene can cause abnormalities with hearing.
  • The High frequency hearing loss seen in patients with RCS appears to be significant factor rather than confusing it with age related hearing loss.

Other Less common clinical associations

The other less common findings seen in patients with RCS are Ligamentous laxity. So far only one patient is identified with Chiari 1 malformation with PAX2 mutation.

Approx. 30- 80% of the Patients have these Symptoms

Medical Terms	Other Names
Multicystic kidney dysplasia
Myopia	Near Sighted Near Sightedness Close Sightedness
Renal Hypoplsia	Small Kidneys Underdeveloped Kidneys
Renal dysplasia
Stage 5 Chronic Kidney Disease
Visual Impairment	Impairment in vision Loss of eye sight
Vesicoureteral Reflux

Approx. 5% - 25% of the Patients have these Symptoms

Medical Terms	Other names
Cataract	Clouding of the eye lens
Horse shoe kidneys
Lens Luxation	Dislocated Lens
Hearing Impairment
Nephrolithiasis	Kidney Stones
Nystagmus	Rapid, Involuntary, rhythmic eye movements
Renal Malrotation
Retinal detachment
Strabismus	Cross Eyes Squint
Retinal Coloboma	Hole in the back side of eye