Papillorenal syndrome physical examination

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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 the 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[1][2] expression during the embryonic period. The commonly affected tissues are inner ear, brain (CNS), spinal cord and less commonly urogenital ridge[3][4][5]

Ocular Abnormalities

The eye findings are-

  • Enlargement of the 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 see 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[6][7]

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 include varying degrees 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 appearance of eye anomalies. Renal abnormalities found in RCS patients with PAX2 gene expression are

  • Renal hypoplasia/ hypo dysplasia
    • kidneys that have a malformed function with a 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 the number of functionally intact nephrons
    • Compensatory glomerular hypertrophy seen.
    • Glomerulosclerosis and meningeal fibrous deposits are the 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

References

  1. ↑ Cunliffe HE, McNoe LA, Ward TA, Devriendt K, Brunner HG, Eccles MR (October 1998). "The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies". J. Med. Genet. 35 (10): 806–12. doi:10.1136/jmg.35.10.806. PMC 1051454. PMID 9783702.
  2. ↑ Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR (April 1997). "Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations". Am. J. Hum. Genet. 60 (4): 869–78. PMC 1712484. PMID 9106533.
  3. ↑ Terzić J, Muller C, Gajović S, Saraga-Babić M (July 1998). "Expression of PAX2 gene during human development". Int. J. Dev. Biol. 42 (5): 701–7. PMID 9712525.
  4. ↑ Tellier AL, Amiel J, Delezoide AL, Audollent S, Augé J, Esnault D, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attié-Bitach T (July 2000). "Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome". Am. J. Med. Genet. 93 (2): 85–8. doi:10.1002/1096-8628(20000717)93:2<85::aid-ajmg1>3.0.co;2-b. PMID 10869107.
  5. ↑ Schimmenti LA, Manligas GS, Sieving PA (December 2003). "Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome". Ophthalmic Genet. 24 (4): 191–202. doi:10.1076/opge.24.4.191.17229. PMID 14566649.
  6. ↑ Higashide T, Wada T, Sakurai M, Yokoyama H, Sugiyama K (January 2005). "Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation". Am. J. Ophthalmol. 139 (1): 203–5. doi:10.1016/j.ajo.2004.07.021. PMID 15652857.
  7. ↑ Samimi S, Antignac C, Combe C, Lacombe D, Renaud Rougier MB, Korobelnik JF (2008). "Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation". Eur J Ophthalmol. 18 (4): 656–8. doi:10.1177/112067210801800430. PMID 18609495.

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