Bardet–Biedl Syndrome: Expanding Clinical and Genetic Horizons with Insights from an Atypical Retinitis Pigmentosa Case | Chapter 6 | Medical Science: Recent Advances and Applications Vol. 11

 

Bardet–Biedl Syndrome (BBS) is a rare multisystem ciliopathy with striking phenotypic and genetic heterogeneity. Ophthalmic manifestations, particularly rod–cone dystrophy resembling retinitis pigmentosa, often provide the earliest diagnostic clue and serve as a gateway to systemic evaluation. Beyond ocular findings, the syndrome encompasses obesity, polydactyly, hypogonadism, renal dysfunction, and developmental or cognitive impairment, necessitating coordinated multidisciplinary care. This chapter presents an atypical paediatric case of BBS with retinitis pigmentosa sine pigmento, central obesity, polydactyly, dental anomalies, and genital hypoplasia, illustrating the spectrum of clinical variability. Recent advances in molecular genetics have expanded the BBS gene spectrum, with the recent discovery of IFT57 further linking intraflagellar transport dysfunction to disease pathogenesis. Current management remains largely supportive, focusing on low-vision rehabilitation and systemic surveillance; however, emerging interventions such as gene augmentation, gene editing, pharmacological agents like setmelanotide, and neuroprotective strategies hold promise for disease modification. By integrating case findings with updated molecular insights, therapeutic advances, and future directions, this chapter highlights the central role of ophthalmologists in early recognition and long-term management of BBS.

 

 

Author(s) Details

Ruchi Shukla
Department of Ophthalmology, AIIMS Raebareli, India.

 

Pragati Garg
Department of Ophthalmology, AIIMS Raebareli, India.

 

Ashutosh Kumar Mishra
Department of Neurology, AIIMS Raebareli, India.

 

Nilakshi Banerjee
Department of Ophthalmology, AIIMS Raebareli, India.

 

Please see the book here :- https://doi.org/10.9734/bpi/msraa/v11/6335

Oxidative Stress and Retinitis Pigmentosa: Mechanisms and Therapeutic Implications| Chapter 5 | Current Progress in Medicine and Medical Research Vol. 1

 Retinitis pigmentosa (RP) shows a collection of hereditary retinal disorders characterized by progressive photoreceptor container degeneration, resulting in physical incapacity and potential blindness in severe cases. Although RP pathogenesis has generally been attributed to hereditary mutations, emerging evidence displays the significant role of oxidative stress in affliction progression. Oxidative stress denotes an inequality between reactive oxygen variety (ROS) production and the retina's antioxidant justification mechanisms. This chapter endeavors to investigate the intricate involvement of oxidative stress in RP and allure impact on disease study of animal and progression. Gaining a inclusive understanding of the complex interplay between oxidative stress and ancestral mutations yields invaluable insights into ailment mechanisms and paves the habit for potential therapeutic interventions. Further research is authoritative to elucidate the precise means underlying oxidative stress in RP and develop address antioxidant-based remedies to mitigate disease progress and safeguard vision in affected things.

Author(s) Details:

Ehsan Sayed Ali,
Department of Biochemistry, Faculty of Pharmacy, Mersin University, Mersin, Turkey.

Ali Erdinc Yalin,
Department of Biochemistry, Faculty of Pharmacy, Mersin University, Mersin, Turkey.

Serap Yalin,
Department of Biochemistry, Faculty of Pharmacy, Mersin University, Mersin, Turkey.

Please see the link here: https://stm.bookpi.org/CPMMR-V1/article/view/11223