Related Experiment Video
Updated: Aug 7, 2025
11:22
Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures
Published on: December 22, 2014
17.9K
NPHP1 FULL DELETION CAUSES NEPHRONOPHTHISIS AND A CONE-ROD DYSTROPHY.
Zujaja Tauqeer1, Erin C O'Neil1,2, Alexander J Brucker1
1Scheie Eye Institute; and.
Retinal Cases & Brief Reports
|March 13, 2023
Summary
This study details a patient with NPHP1 gene deletion causing cone-rod dystrophy and renal disease. This expands understanding of NPHP1-associated retinal degeneration and ciliopathies.
Area of Science:
- Ophthalmology
- Genetics
- Nephrology
Background:
- Nephronophthisis 1 (NPHP1) gene deletions are linked to systemic ciliopathies.
- Retinal degeneration is a known manifestation, often rod-predominant.
Observation:
- A 30-year-old male with end-stage renal disease presented with progressive vision loss.
- Ophthalmic evaluation revealed bull's-eye maculopathy, outer retinal thinning, and reduced cone/rod function.
Findings:
- Genetic testing confirmed a homozygous whole-gene deletion of NPHP1.
- The patient exhibited a cone-rod dystrophy phenotype, not previously emphasized for NPHP1.
Implications:
- NPHP1-associated retinal degeneration can present as cone-rod dystrophy.
- This highlights the spectrum of retinal disease in systemic ciliopathies, emphasizing the link between NPHP1, renal, and retinal abnormalities.
Related Concept Videos
01:10Nephrons
3.1K
The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma...
3.1K
01:20Renal Corpuscle
3.0K
The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
3.0K
01:24Nephrotic Syndrome I : Introduction
12
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
12
01:24Renal Tubule and Collecting Duct
1.2K
The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
1.2K
01:29Acute Kidney Injury II: Pathophysiology
40
Acute kidney injury (AKI) causes are categorized into three primary categories based on the location of the injury: prerenal, intrarenal (or intrinsic), and postrenal causes. This classification guides clinical management and illustrates how different pathways can impair kidney function.Etiology and Pathophysiology of Acute Kidney Injury1. Prerenal causesEtiology: Prerenal Acute Kidney Injury, the most common type, occurs when reduced blood flow to the kidneys decreases filtration capacity...
40
01:22Lysosomal Hydrolases
3.9K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.9K