PMID- 15464427
OWN - NLM
STAT- MEDLINE
DCOM- 20050321
LR  - 20061115
IS  - 1096-7192 (Print)
IS  - 1096-7192 (Linking)
VI  - 83
IP  - 1-2
DP  - 2004 Sep-Oct
TI  - Electroretinographic and clinicopathologic correlations of retinal dysfunction in 
      infantile neuronal ceroid lipofuscinosis (infantile Batten disease).
PG  - 128-37
AB  - Infantile neuronal ceroid lipofuscinosis (INCL) is an autosomal recessive disease 
      that results from deficiency of palmitoyl-protein thioesterase-1 (PPT1). INCL 
      leads to retinal blindness, neurodegeneration, and early death. We studied the 
      clinical features and electroretinogram (ERG) in three patients and 
      histopathologic and immunofluorescence analyses of the retina in the third 
      patient, who died at 3 years 2 months of age. The ERGs for the 2 youngest 
      patients (ages 1.7 and 2.3 years) showed normal scotopic bright flash a-wave 
      amplitudes with severe loss of b-wave (electronegative ERG), indicating 
      dysfunction at or proximal to the photoreceptor inner segments. The third patient 
      at 2.9 years of age showed subnormal a-wave amplitudes and even greater loss of 
      b-wave amplitudes. Histopathology revealed reduced cell numbers in all retinal 
      layers, including the inner nuclear layer (INL), and a central epiretinal 
      membrane. Autofluorescent lipofuscin granules were present in all neuronal cell 
      types in the retina. Cones and rods in the parafoveal area were labeled with a 
      cone cytoplasmic marker, mAb 7G6, and anti-rhodopsin, respectively, and had 
      extremely short outer segments. The periphery showed better preservation but 
      photoreceptor outer segments were short. Immunofluorescence revealed degenerate 
      rods and cones throughout the retina with better preservation in the periphery. 
      Autofluorescent lipofuscin was found in all cell types, including cone inner 
      segments, to a greater degree than seen in normal ageing. The ERG findings 
      support the existence early in the disease of a relative pre- or post-synaptic 
      block of effective neurotransmission from photoreceptor inner segments to the 
      second order bipolar neurons.
FAU - Weleber, Richard G
AU  - Weleber RG
AD  - Casey Eye Institute and Department of Ophthalmology, Oregon Health and Science 
      University, Portland, OR, USA. weleberr@ohsu.edu
FAU - Gupta, Nisha
AU  - Gupta N
FAU - Trzupek, Karmen M
AU  - Trzupek KM
FAU - Wepner, Meredith S
AU  - Wepner MS
FAU - Kurz, Daryl E
AU  - Kurz DE
FAU - Milam, Ann H
AU  - Milam AH
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Mol Genet Metab
JT  - Molecular genetics and metabolism
JID - 9805456
RN  - 0 (Lipofuscin)
SB  - IM
MH  - Child, Preschool
MH  - *Electroretinography
MH  - Eye/pathology
MH  - Female
MH  - Humans
MH  - Infant
MH  - Lipofuscin/metabolism
MH  - Lysosomal Storage Diseases/etiology
MH  - Male
MH  - Neuronal Ceroid-Lipofuscinoses/*etiology/*pathology
MH  - Reference Values
MH  - Retinal Degeneration/pathology
MH  - Retinal Diseases/*physiopathology
EDAT- 2004/10/07 09:00
MHDA- 2005/03/22 09:00
CRDT- 2004/10/07 09:00
PHST- 2004/03/13 00:00 [received]
PHST- 2004/06/25 00:00 [revised]
PHST- 2004/06/28 00:00 [accepted]
PHST- 2004/10/07 09:00 [pubmed]
PHST- 2005/03/22 09:00 [medline]
PHST- 2004/10/07 09:00 [entrez]
AID - S1096-7192(04)00170-2 [pii]
AID - 10.1016/j.ymgme.2004.06.019 [doi]
PST - ppublish
SO  - Mol Genet Metab. 2004 Sep-Oct;83(1-2):128-37. doi: 10.1016/j.ymgme.2004.06.019.