Ocular Pediatrics Laboratory

Principal Investigator

Ken K. Nischal, MD, FAAP, FRCOphth
Professor of Ophthalmology
Ocular Pediatrics Laboratory
University of Pittsburgh Schoold of Medicine

"Research is the Mother of Clinical Practice; all children ask their mother’s difficult questions. Together they inevitably find an answer” ~ Ken K. Nischal


Lab Personnel

Ken Nischal, MD, FAAP, FRCOphth – Clinical researcher who collaborates with basic scientists but within his Division ‘dry’ labs are held with personnel recruited globally
Bharesh Chauhan PhD – Molecular Biologist with special interest in the molecular biology of anterior segment developmental anomalies
Kathryn Lemon
Alki Liasis PhD – Neuroscientist with special interest in visual electrophysiology and movements
Ellen Mitchell
Preeti Patil
Hannah Scanga MS, LCGC – Clinical Genetic Counselor with special interest in psychosocial aspects of precision medicine


Research Interests

Congenital Corneal Opacities ( Peters’ anomaly, Sclerocornea etc)
Other Anterior Segment Developmental anomalies ( Axenfeld Rieger Anomaly, Aniridia, Brittle Cornea Syndrome, Congenital Aphakia)
Pediatric Acquired Corneal Diseases ( Keratoconus, Blepharokeratoconjunctivitis, Epidermolysis Bullosa, Metabolic disorders)

Pediatric Cataract
Pediatric Cornea
Pediatric Glaucoma

Visual Evoked Potential

Structure Function anlaysis for Retinal Dytsrophies
Systemic disease with ocular involvement 


Past and Current Translational Collaborative Projects

Finding Novel genes for Ocular Developmental Disease
(Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A,  Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC. Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Hum Mol Genet. 2014 May 15;23(10):2511-26
Collaborator : Jane Sowden PhD, University College London, UK

Developing Strategies to Explain Non-predicted Phenotypes of Eye Disease
(Islam L, Kelberman D, Williamson L, Lewis N, Glindzicz MB, Nischal KK, Sowden  JC. Functional analysis of FOXE3 mutations causing dominant and recessive ocular  anterior segment disease. Hum Mutat. 2015 Mar;36(3):296-300.)

Kelberman D, Islam L, Holder SE, Jacques TS, Calvas P, Hennekam RC, Nischal KK, Sowden JC. Digenic inheritance of mutations in FOXC1 and PITX2 : correlating  transcription factor function and Axenfeld-Rieger disease severity. Hum Mutat. 2011 Oct;32(10):1144-52.)
Collaborator : Jane Sowden PhD, University College London, UK

Chauhan BK, Medsinge A, Baumgartner MP, Scanga HL, Kamakari S, Gajdosova E, Camacho CJ, Nischal KK. Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations. Am J Ophthalmol Case Rep. 2018 Feb 28;10:172-179.
Collaborator : Bharesh Chauhan PhD, University of Pittsburgh, USA

Imaging the Palisades of Vogt in Congenital Corneal Opacities  
(Nischal KK, Lathrop KL. The Palisades of Vogt in Congenital Corneal Opacification (An American Ophthalmological Society Thesis). Trans Am Ophthalmol  Soc. 2016 Aug;114:T8.)
Collaborator : Kira Lathrop MAMS, University of Pittsburgh , USA

Convergent Regression in Subterranean Mammals
(Partha R, Chauhan BK, Ferreira Z, Robinson JD, Lathrop K, Nischal KK, Chikina  M, Clark NL. Subterranean mammals show convergent regression in ocular genes and  enhancers, along with adaptation to tunneling. Elife. 2017 Oct 16;6. pii: e25884)
Collaborator : Nathan Clark PhD, University of Pittsburgh, USA

Developing a Drug Delivery System for Cystinotic Children with Corneal Crystals
Collaborator : Morgan Fedorchak PhD, University of Pittsburgh, USA

Use of RNA Seq to Identify Molecular Causes of Rare Diseases
Collaborator : Bharesh Chauhan PhD, University of Pittsburgh , USA

Identifying Non-coding region mutations to explain Distinct Clinical Ocular Deep Phenotypes
Collaborator : Bharesh Chauhan PhD, University of Pittsburgh, USA and Nathan Clark PhD, University of Pittsburgh, USA