Retinal Manifestations in Familial Lipoprotein Lipase Deficiency

Case Report
Retinal Manifestations in Familial
Lipoprotein Lipase Deficiency
Dr.Jyothi Vanteri and Dr.Parag K Shah, Aravind Eye Hospital, Coimbatore
Introduction
Lipemia retinalis is an unusual retinal manifestation
of hyperlipidemia and is though to be directly
correlated with serum triglyceride levels. Creamy
appearance of retinal blood vessels occurs when
concentration of lipids in blood more than
5%.Lipemia retinalis is also associated with
hypertriglyceridemia with poorly controlled Type
1 diabetes mellitus in adults.
Case Report
A 1 month old female child referred from a
private hospital as diagnosed case of metabolic
syndrome for ophthalmic evaluation. Child was
10 days preterm with birth weight of 2750 gms
by normal delivery to parents of second degree
consanguineous marriage. On ocular examination
anterior segment of both eyes shows normal,
findings posterior segment shows optic discs were
small in size and yellow in colour, retinal blood
vessels we dilated, tortuous and milky white in
colour with salmon pink retina. Investigations
showed total cholesterol was 7000mg/dl and
triglycerides was 8530 mg/dl. Dietary restriction
of fat was advised. As child was on breast feed
switched to low fat skimmed milk.
Discussion
Lipoprotein lipase deficiency is an autosomal
recessive disease. Deficiency of lipoprotein lipase
or its cofactor APO C II which is necessary
for its activation leads to impaired clearance
causes accumulation of TG rich lipoproteins
in plasma and organs leads to Elevation of TG
levels & reduction of HDL Levels. The variation
of the aspect in the fundus has been graded as
Grade I (early) - white and creamy aspect of the
peripheral retina vessels; Grade II (moderate) the creamy colour of the vessels extends towards
the optic disc; Grade III (marked) - the retina
Figure: Fundus photos of right and left eye (Figure 1Aand B) showing salmon pink retina (white arrows) and milky
white retinal blood vessels (black arrows) suggestive of lipemia retinalis.
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appears salmon color and all vessels having milky
appearance. Other ocular features associated with
hypertriglyceridemia are corneal arcus, corneal
opacification, lipid keratopathy, lipemic aqueous,
iris and retinal xanthomas and xanthelesma.
Systemic associations include eruptive skin
xanthoma, palmare striatum, hepatic steatosis,
mental changes and pancreatitis. Diagnosis of
familial LPL is confirmed by detection of either
Biallelic pathogenic variants in LPL or Low or
absent lipoprotein lipase enzyme activity. Usually
no treatment is required for lipemia retinalis
itself. Control of triglyceride levels will reverse
the systemic as well as ocular manifestations.
Restriction of fat in the diet (<10g/day) and
AECS Illumination
elevated intake of protein and carbohydrate should
be advised. Medium chain triglycerides can help
because their hydrolysis is not dependent on
lipoprotein lipase. Lipid lowering drugs are not
effective in familial LPL deficiency.
Conclusion
Whenever child was seen with high cholesterol
levels, parents should be investigated to rule out
familial causes and search for systemic associations
with lipemia retinalis. Paediatrician opinion
should be obtained. Necessary investigations
should be done to rule out systemic problems.
Dietary restriction of fat should be advised.
Regular follow up is necessary.
References
1. Cypel M, Manzano R, et al.(2008): Lipemia retinalis in a 35 –day old infant with hyperlipoproteinemia:
case report Arq Bras Oftalmol.2008;71(2):254-6.
2. Shankar K N,Bava H s, Shetty J,Joshi M K.Lipoprotein lipase deficiency.J Postgrad Med 1997;43:81-2.
3. Zahavi A,et al Lipemia retinalis : case report and review of literature. JAAPOS.2013 Feb;17(1):10-1.
4. Lipemia retinalis assosiated with secondary hyperlipidemia N ENGL J MED 357;10 Sep 6,2007.
5. Hayasaka S, Fukuyo T, et al.(1985):Lipemiaretinalis in a 29 day old infant with type 1
hyperlipoproteinemia.Br J Ophthal69:280-282.