Clinical heterogeneity of congenital renal hypoplasia and possible ocular phenotypic manifestations

Жалгасбаева Диана Амангельдиновна

Лечащий врач, 2026

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DOI 10.51793/os.2026.29.8.017
Data confidence 70 medium
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Abstract

Objective. To analyze the clinical heterogeneity of congenital renal hypoplasia and to evaluate the available data on possible ocular manifestations associated with this pathology in order to substantiate an interdisciplinary approach to patient management. Materials and methods. A literature search was conducted in the PubMed, Google Scholar, Cyberleninka, and GeneReviews databases for the period 2013-2025 using keywords reflecting the association between congenital kidney anomalies and ophthalmic pathology. The final analysis included 21 sources that met the inclusion criteria (original studies, systematic reviews, case reports, and handbook chapters). Results. Congenital renal hypoplasia is characterized by significant heterogeneity, ranging from an asymptomatic course to progressive chronic kidney disease, with variable age of manifestation and frequent associated malformations (68.4% in the pelvis, 21.5% in the thoracic cavity). Approximately 54% of genes associated with congenital anomalies of the kidney and urinary tract (CAKUT) have described ophthalmic manifestations. Five of the six most common CAKUT genes (PAX2, EYA1, SALL1, GATA3, PBX1) are associated with ocular anomalies. The review details the ophthalmic phenotypes in syndromes that include renal hypoplasia: papillorenal syndrome (PAX2) – optic disc dysplasia; SALL4-related disorders (Duane-radial ray syndrome) – Duane anomaly, coloboma; Townes-Brocks syndrome (SALL1) – Duane anomaly, iris coloboma; branchiooculofacial syndrome (TFAP2A) – microphthalmia, coloboma, cataract. Data on systematic ophthalmological examination of patients with isolated (nonsyndromic) congenital renal hypoplasia are absent in the literature; however, the high expression of renal genes in ocular tissues suggests the possibility of subclinical changes. Conclusion. Congenital renal hypoplasia is often a component of systemic embryogenesis disorders. Ocular symptoms (coloboma, Duane anomaly, optic disc dysplasia, etc.) can serve as important diagnostic markers for specific genetic syndromes. Including ophthalmological screening in the examination protocol for children with congenital renal hypoplasia appears justified for the early detection of hidden visual abnormalities and the optimization of interdisciplinary patient management.