PLOD3

Clinical Characteristics

Individuals affected by PLOD3-related disease have health problems affecting many parts of their body (multisystem). In particular, there are visual problems with an increased chance of detachment of the back of the eye (retina), hearing loss caused by nerve problem (sensorineural), restricted movement of finger joints (contractures), prominent knees, curved spine (scoliosis), thinner bones (low bone mineral density), and skin blistering in some. Individuals have recognisable features to trained clinicians (for example a flat facial profile, prominent eyes, small/short nose) that may not be easily recognised by the general public. Some individuals have delays with their development. There is also an increased chance of blood vessel tear/rupture. Not all individuals with changes in the PLOD3 gene have all of these health problems/features.

Specific eye problems can include early clouding of the lens (cataract formation), being short-sighted, and specific eyes differences noted on examination by an ophthalmologist (eye doctor). A tear/detachment of the back of the eye (retinal detachment) has been described, and so it is important for an individual with PLOD3-related disease to seek early medical assistance if they have concerns about changes in their vision. Such changes include the sudden appearance of floaters (tiny specks), flashes of light, blurred vision, a curtain-like shadow across your vision.

Skin problems are also variable. Most individuals have less obvious (reduced) creases on their palms. Some individuals have more severe skin involvement with blistering and erosions, similar to a rare type of skin disorder called dystrophic epidermolysis bullosa.

There are often joint movement restrictions in the fingers (contractures), prominent knees, and curvature of the spine (scoliosis). In individuals who are more severely affected they may also have restricted joint movement in large joints such as the elbows.